| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1278 |
Name | COL1A2 |
Synonymous | OI4;collagen, type I, alpha 2;COL1A2;collagen, type I, alpha 2 |
Definition | alpha 2(I)-collagen|alpha-2 type I collagen|collagen I, alpha-2 polypeptide|collagen alpha-2(I) chain|collagen of skin, tendon and bone, alpha-2 chain|type I procollagen |
Position | 7q22.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for COL1A2 | ||
PCGP somatic mutation [Top] | ||
There is no record for COL1A2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1619A>T; p.Q540L; |
liver | carcinoma; hepatocellular_carcinoma |
c.3686G>A; p.G1229E; |
skin; arm | malignant_melanoma |
c.199_200CC>TT; p.P67F; |
NS | malignant_melanoma |
c.199_200CC>TT; p.P67F; |
NS | malignant_melanoma |
c.3466A>G; p.R1156G; |
lung | carcinoma; squamous_cell_carcinoma |
c.831_832insC; p.A279fs*6; |
NS | malignant_melanoma |
c.1211C>A; p.S404Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.259G>A; p.G87R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2378G>T; p.G793V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3031C>T; p.P1011S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3241G>T; p.G1081C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1384G>A; p.A462T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.379-2A>C; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.738+6delt; p.?; |
liver | carcinoma |
c.132+1G>T; p.?; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2722C>T; p.P908S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1404C>T; p.V468V; |
oesophagus | carcinoma; adenocarcinoma |
c.273A>C; p.G91G; |
oesophagus | carcinoma; adenocarcinoma |
c.898C>T; p.P300S; |
oesophagus | carcinoma; adenocarcinoma |
c.1971G>T; p.K657N; |
oesophagus | carcinoma; adenocarcinoma |
c.2319T>C; p.P773P; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3160-2A>C; p.?; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.919G>A; p.G307S; |
oesophagus | carcinoma; adenocarcinoma |
c.1565C>T; p.P522L; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1966G>T; p.E656*; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1377C>A; p.I459I; |
oesophagus | carcinoma; adenocarcinoma |
c.3248A>G; p.Q1083R; |
oesophagus | carcinoma; adenocarcinoma |
c.3659C>G; p.S1220C; |
oesophagus | carcinoma; adenocarcinoma |
c.2083G>A; p.E695K; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3135C>T; p.G1045G; |
stomach | carcinoma; adenocarcinoma |
c.2526C>T; p.F842F; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1200T>C; p.G400G; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.789C>T; p.P263P; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1930G>T; p.E644*; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.220G>T; p.G74C; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.119C>G; p.P40R; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.3818A>G; p.K1273R; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.3719A>G; p.Y1240C; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.811G>A; p.G271S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.497G>A; p.G166D; |
skin; trunk | malignant_melanoma; nodular |
c.2782-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.1423G>A; p.G475S; |
lung | carcinoma; adenocarcinoma |
c.3386G>T; p.R1129I; |
lung | carcinoma; adenocarcinoma |
c.2776C>A; p.R926S; |
lung | carcinoma; adenocarcinoma |
c.670C>G; p.R224G; |
lung | carcinoma; adenocarcinoma |
c.1711G>T; p.G571*; |
lung | carcinoma; adenocarcinoma |
c.2507C>T; p.A836V; |
lung | carcinoma; adenocarcinoma |
c.2026G>T; p.G676C; |
lung | carcinoma; adenocarcinoma |
c.2123G>T; p.R708L; |
lung | carcinoma; adenocarcinoma |
c.1252-2A>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.2705C>A; p.P902H; |
lung | carcinoma; adenocarcinoma |
c.2948C>T; p.P983L; |
lung | carcinoma; adenocarcinoma |
c.3955-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.2266A>G; p.T756A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.2255T>A; p.V752D; |
breast | carcinoma |
c.2266A>G; p.T756A; |
breast | carcinoma |
c.3598G>A; p.G1200S; |
skin; extremity | malignant_melanoma |
c.2183C>T; p.P728L; |
NS | malignant_melanoma |
c.2251G>A; p.G751S; |
NS | malignant_melanoma |
c.3281C>T; p.P1094L; |
skin; trunk | malignant_melanoma |
c.1186C>T; p.P396S; |
skin; extremity | malignant_melanoma |
c.2828G>T; p.G943V; |
breast | carcinoma |
c.395G>A; p.R132H; |
bone | NS |
c.859C>T; p.L287F; |
bone | chondrosarcoma |
c.274C>A; p.P92T; |
liver | carcinoma |
c.2770G>T; p.A924S; |
liver | carcinoma |
c.2056C>A; p.P686T; |
liver | carcinoma |
c.227A>G; p.N76S; |
liver | carcinoma |
c.398G>T; p.G133V; |
lung | carcinoma; small_cell_carcinoma |
c.3264T>A; p.P1088P; |
lung | carcinoma; small_cell_carcinoma |
c.1931A>G; p.E644G; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.106G>A; p.G36R; |
prostate | adenoma |
c.1939G>T; p.A647S; |
prostate | adenoma |
c.2248A>C; p.N750H; |
breast | carcinoma; ductal_carcinoma |
c.2255T>A; p.V752D; |
breast | carcinoma; ductal_carcinoma |
c.2266A>G; p.T756A; |
breast | carcinoma; ductal_carcinoma |
c.2079G>A; p.R693R; 7:93886799-93886799 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2821C>T; p.Q941*; |
lung | carcinoma; adenocarcinoma |
c.3384C>A; p.L1128L; |
lung | carcinoma; adenocarcinoma |
c.2746G>T; p.G916*; |
lung | carcinoma; adenocarcinoma |
c.1226G>T; p.G409V; |
lung | carcinoma; adenocarcinoma |
c.2813G>A; p.R938H; 7:93892889-93892889 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.688C>T; p.P230S; 7:93875479-93875479 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3277G>T; p.G1093C; |
ovary | carcinoma; serous_carcinoma |
c.568G>A; p.G190R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2726C>T; p.P909L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2426C>T; p.P809L; |
lung | carcinoma; squamous_cell_carcinoma |
c.744C>T; p.P248P; |
lung | carcinoma; squamous_cell_carcinoma |
c.2021C>A; p.A674D; |
lung | carcinoma; squamous_cell_carcinoma |
c.924C>T; p.A308A; |
lung | carcinoma; squamous_cell_carcinoma |
c.2486G>T; p.G829V; |
lung | carcinoma; squamous_cell_carcinoma |
c.2809G>A; p.G937S; 7:93892885-93892885 |
ovary | carcinoma; serous_carcinoma |
c.2527G>A; p.A843T; 7:93890328-93890328 |
ovary | carcinoma; serous_carcinoma |
c.2121T>A; p.P707P; |
lung | carcinoma; squamous_cell_carcinoma |
c.988C>A; p.P330T; |
lung | carcinoma; adenocarcinoma |
c.1798G>T; p.A600S; |
lung | carcinoma; squamous_cell_carcinoma |
c.2582C>T; p.P861L; |
lung | carcinoma; squamous_cell_carcinoma |
c.22C>A; p.R8R; |
lung | carcinoma; adenocarcinoma |
c.1048C>A; p.P350T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1245C>T; p.G415G; |
ovary | carcinoma; serous_carcinoma |
c.4044C>T; p.D1348D; |
lung | carcinoma; squamous_cell_carcinoma |
c.3332G>T; p.G1111V; |
lung | carcinoma; adenocarcinoma |
c.2645G>A; p.R882H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2625C>T; p.L875L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.937G>T; p.G313C; |
lung | carcinoma; adenocarcinoma |
c.937G>T; p.G313C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2225G>T; p.G742V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.3881G>C; p.G1294A; |
lung | carcinoma; adenocarcinoma |
c.891+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.1945G>A; p.G649S; |
lung | carcinoma; squamous_cell_carcinoma |
c.2005C>A; p.P669T; |
ovary | carcinoma; serous_carcinoma |
c.1991G>T; p.G664V; |
lung | carcinoma; squamous_cell_carcinoma |
c.2539G>A; p.G847S; |
lung | carcinoma; adenocarcinoma |
c.946G>T; p.G316C; |
lung | carcinoma; squamous_cell_carcinoma |
c.3846G>T; p.E1282D; |
lung | carcinoma; squamous_cell_carcinoma |
c.3118G>A; p.D1040N; |
lung | carcinoma; squamous_cell_carcinoma |
c.3715G>T; p.E1239*; |
lung | carcinoma; squamous_cell_carcinoma |
c.534C>A; p.G178G; |
lung | carcinoma; squamous_cell_carcinoma |
c.3666C>G; p.D1222E; |
lung | carcinoma; squamous_cell_carcinoma |
c.2026G>T; p.G676C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1538C>T; p.A513V; |
lung | carcinoma; adenocarcinoma |
c.2275G>T; p.V759F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2091G>T; p.G697G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1002T>C; p.G334G; |
lung | carcinoma; adenocarcinoma |
c.409_410CC>AA; p.P137N; |
lung | carcinoma; adenocarcinoma |
c.3657C>A; p.S1219R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1688C>T; p.P563L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3988G>C; p.E1330Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.215G>A; p.G72D; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1562C>T; p.A521V; |
breast | carcinoma |
c.411T>A; p.P137P; |
breast | carcinoma |
c.2925T>A; p.H975Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3829G>A; p.A1277T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2241G>T; p.K747N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.966C>T; p.G322G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1446A>C; p.P482P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2503G>A; p.G835S; |
breast | carcinoma |
c.1988G>C; p.R663T; |
breast | carcinoma |
c.3001C>T; p.P1001S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2813G>A; p.R938H; 7:93892889-93892889 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3238C>T; p.R1080*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3244C>T; p.P1082S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.517C>T; p.L173F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2313C>T; p.P771P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.179G>A; p.G60D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1246G>A; p.V416I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2905G>A; p.V969M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2796C>T; p.N932N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2151C>T; p.V717V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.20C>T; p.T7M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2517C>T; p.P839P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1567G>A; p.G523S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3744G>T; p.K1248N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3013C>T; p.R1005C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3102C>T; p.I1034I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2408T>G; p.I803S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2452C>A; p.L818I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2159C>G; p.A720G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2341G>T; p.G781C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2686C>T; p.P896S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2814C>T; p.R938R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1404C>T; p.V468V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2078G>A; p.R693Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1377C>T; p.I459I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2060C>A; p.A687D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3642G>A; p.K1214K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3967G>T; p.E1323*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.701G>A; p.R234H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.179G>T; p.G60V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3355G>A; p.A1119T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3273C>A; p.P1091P; |
breast | carcinoma |
c.689C>T; p.P230L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2570C>T; p.P857L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3496T>G; p.L1166V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3688G>T; p.E1230*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3815G>A; p.C1272Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4047C>T; p.I1349I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3940G>C; p.V1314L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3270delC; p.P1092fs*12; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2271C>T; p.G757G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3312C>T; p.S1104S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2077C>A; p.R693R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2214A>G; p.K738K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.133-2A>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.904G>T; p.A302S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2378G>A; p.G793E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1910G>A; p.G637D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2066C>T; p.A689V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2250C>T; p.N750N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3455C>A; p.P1152H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1565C>T; p.P522L; |
breast | carcinoma |
c.1419C>G; p.I473M; |
breast | carcinoma |
c.2587C>T; p.P863S; |
breast | carcinoma |
c.2025+1G>A; p.?; |
urinary_tract; bladder | carcinoma |
c.4013G>A; p.R1338H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.157G>T; p.D53Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1419C>T; p.I473I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1723C>A; p.L575I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2489G>A; p.R830Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1622G>T; p.G541V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3951C>T; p.C1317C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1109G>T; p.G370V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2623C>A; p.L875I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2299C>A; p.P767T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2250C>T; p.N750N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3331G>T; p.G1111C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1686T>C; p.G562G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2353A>G; p.M785V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3955-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2069C>A; p.T690K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.81+2T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3772C>T; p.R1258C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3482G>A; p.R1161H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.173C>A; p.P58H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3675C>T; p.H1225H; |
breast | carcinoma |
c.2078G>A; p.R693Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2776C>T; p.R926C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3346T>C; p.F1116L; |
cervix | carcinoma; squamous_cell_carcinoma |
c.763C>G; p.P255A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2560A>G; p.T854A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2592G>A; p.Q864Q; |
urinary_tract; bladder | carcinoma |
c.2394A>G; p.P798P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2933G>A; p.R978H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2814C>T; p.R938R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2248A>C; p.N750H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.2255T>A; p.V752D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.2266A>G; p.T756A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.3822C>A; p.N1274K; |
prostate | carcinoma |
c.2704C>T; p.P902S; |
skin | malignant_melanoma |
c.542G>A; p.G181E; |
skin | malignant_melanoma |
c.568_569GG>AA; p.G190K; |
skin | malignant_melanoma |
c.1160C>G; p.A387G; |
skin | malignant_melanoma |
c.2341G>C; p.G781R; |
skin | malignant_melanoma |
c.1819G>A; p.G607R; |
skin; neck | malignant_melanoma |
c.2299C>T; p.P767S; |
skin; upper_leg | malignant_melanoma |
c.2083G>A; p.E695K; |
skin | malignant_melanoma |
c.902G>A; p.G301E; |
skin | malignant_melanoma |
c.1963G>A; p.G655R; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.2806C>T; p.P936S; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.3270delC; p.P1092fs*12; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |