Entrez Gene

Basic Information
Gene ID	2590
Name	GALNT2
Synonymous	polypeptide N-acetylgalactosaminyltransferase 2;GALNT2;polypeptide N-acetylgalactosaminyltransferase 2
Definition	UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2\|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)\|polypeptide GalNAc transferase 2\|pp-GaNTase 2
Position	1q41-q42
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.196C>T; p.Q66*; 1:230178287-230178287	prostate	carcinoma	Substitution - Nonsense
c.338G>A; p.R113Q; 1:230203254-230203254	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1614G>C; p.L538L; 1:230279356-230279356	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1230-10T>C; p.?; 1:230262912-230262912	pancreas	carcinoma	Unknown
c.816C>T; p.G272G; 1:230246149-230246149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1230-10T>C; p.?; 1:230262912-230262912	pancreas	carcinoma	Unknown
c.228A>G; p.V76V; 1:230203144-230203144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1290T>A; p.L430L; 1:230262982-230262982	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1575C>T; p.I525I; 1:230279317-230279317	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1381G>T; p.G461*; 1:230265308-230265308	pancreas	carcinoma	Substitution - Nonsense
c.1452G>A; p.L484L; 1:230274456-230274456	breast	carcinoma	Substitution - coding silent
c.270G>A; p.T90T; 1:230203186-230203186	pancreas	carcinoma	Substitution - coding silent
c.14C>T; p.S5L; 1:230067294-230067294	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.302G>A; p.R101H; 1:230203218-230203218	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.703G>A; p.E235K; 1:230243401-230243401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.794G>A; p.G265E; 1:230246127-230246127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1110G>A; p.P370P; 1:230255318-230255318	prostate	carcinoma	Substitution - coding silent
c.534C>T; p.S178S; 1:230236413-230236413	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1006C>T; p.L336L; 1:230250557-230250557	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1714T>C; p.*572Q; 1:230279456-230279456	large_intestine	carcinoma; adenocarcinoma	Nonstop extension
c.1714T>C; p.*572Q; 1:230279456-230279456	large_intestine	carcinoma; adenocarcinoma	Nonstop extension
c.1714T>C; p.*572Q; 1:230279456-230279456	large_intestine; colon	carcinoma	Nonstop extension
c.1714T>C; p.*572Q; 1:230279456-230279456	large_intestine	carcinoma; adenocarcinoma	Nonstop extension
c.760G>A; p.D254N; 1:230246093-230246093	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1354C>T; p.Q452*; 1:230265281-230265281	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1168G>A; p.D390N; 1:230262604-230262604	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.732C>T; p.D244D; 1:230246065-230246065	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.972C>T; p.Y324Y; 1:230250523-230250523	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1211G>C; p.R404T; 1:230262647-230262647	skin	malignant_melanoma	Substitution - Missense
c.437A>G; p.N146S; 1:230236076-230236076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.730-7A>G; p.?; 1:230246056-230246056	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.797C>T; p.A266V; 1:230246130-230246130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.796G>C; p.A266P; 1:230246129-230246129	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.474C>T; p.S158S; 1:230236353-230236353	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.480T>C; p.L160L; 1:230236359-230236359	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1482T>G; p.D494E; 1:230274486-230274486	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.239A>G; p.D80G; 1:230203155-230203155	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.813G>C; p.K271N; 1:230246146-230246146	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1314-1G>T; p.?; 1:230265240-230265240	skin	malignant_melanoma	Unknown
c.952T>G; p.F318V; 1:230250503-230250503	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.867G>T; p.Q289H; 1:230249233-230249233	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.416G>A; p.S139N; 1:230236055-230236055	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1059G>A; p.P353P; 1:230255267-230255267	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.297C>T; p.Y99Y; 1:230203213-230203213	prostate	carcinoma	Substitution - coding silent
c.1504C>T; p.R502W; 1:230274508-230274508	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1190A>T; p.Y397F; 1:230262626-230262626	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.286C>A; p.Q96K; 1:230203202-230203202	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.696C>G; p.H232Q; 1:230243394-230243394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1641C>T; p.S547S; 1:230279383-230279383	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1593G>C; p.L531L; 1:230279335-230279335	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1641C>T; p.S547S; 1:230279383-230279383	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1593G>C; p.L531L; 1:230279335-230279335	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1600G>A; p.V534M; 1:230279342-230279342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>T; p.C227C; 1:230243379-230243379	pancreas	carcinoma	Substitution - coding silent
c.756C>A; p.I252I; 1:230246089-230246089	breast	carcinoma	Substitution - coding silent
c.1136+1G>C; p.?; 1:230255345-230255345	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.237A>G; p.P79P; 1:230203153-230203153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.12C>A; p.R4R; 1:230067292-230067292	thyroid	other; neoplasm	Substitution - coding silent
c.1403T>C; p.V468A; 1:230265330-230265330	skin	malignant_melanoma	Substitution - Missense
c.331A>T; p.K111*; 1:230203247-230203247	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.214C>T; p.P72S; 1:230178305-230178305	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.779A>C; p.N260T; 1:230246112-230246112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.75delG; p.G27fs*115; 1:230067355-230067355	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.541C>T; p.P181S; 1:230236420-230236420	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.541+2T>C; p.?; 1:230236422-230236422	stomach	carcinoma; adenocarcinoma	Unknown
c.858G>A; p.T286T; 1:230249224-230249224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.580C>T; p.R194*; 1:230236698-230236698	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.580C>T; p.R194*; 1:230236698-230236698	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.580C>T; p.R194*; 1:230236698-230236698	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.366G>A; p.R122R; 1:230203282-230203282	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.398T>G; p.V133G; 1:230236037-230236037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.401A>G; p.D134G; 1:230236040-230236040	breast	carcinoma	Substitution - Missense
c.408G>T; p.P136P; 1:230236047-230236047	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.293C>T; p.P98L; 1:230203209-230203209	skin	malignant_melanoma	Substitution - Missense
c.398T>G; p.V133G; 1:230236037-230236037	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.303C>T; p.R101R; 1:230203219-230203219	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1679C>T; p.S560L; 1:230279421-230279421	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1345G>A; p.A449T; 1:230265272-230265272	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.948C>A; p.F316L; 1:230250499-230250499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.750A>G; p.S250S; 1:230246083-230246083	skin	malignant_melanoma	Substitution - coding silent
c.599G>A; p.R200Q; 1:230236717-230236717	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.851A>G; p.Y284C; 1:230249217-230249217	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.599G>A; p.R200Q; 1:230236717-230236717	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.968A>T; p.K323M; 1:230250519-230250519	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.450G>A; p.S150S; 1:230236089-230236089	prostate	carcinoma	Substitution - coding silent
c.1455G>A; p.T485T; 1:230274459-230274459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.660G>T; p.L220L; 1:230243358-230243358	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.888C>A; p.N296K; 1:230249254-230249254	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1262T>C; p.L421P; 1:230262954-230262954	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1262T>C; p.L421P; 1:230262954-230262954	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1077C>T; p.H359H; 1:230255285-230255285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.825T>C; p.D275D; 1:230249191-230249191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.429G>A; p.T143T; 1:230236068-230236068	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.857C>T; p.T286M; 1:230249223-230249223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1103C>T; p.T368M; 1:230255311-230255311	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.282C>T; p.S94S; 1:230203198-230203198	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.163G>C; p.D55H; 1:230178254-230178254	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.453C>G; p.A151A; 1:230236092-230236092	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.633G>T; p.G211G; 1:230243331-230243331	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.163G>C; p.D55H; 1:230178254-230178254	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1109C>T; p.P370L; 1:230255317-230255317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.968A>G; p.K323R; 1:230250519-230250519	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.566A>C; p.K189T; 1:230236684-230236684	large_intestine; rectum	NS	Substitution - Missense
c.787T>C; p.Y263H; 1:230246120-230246120	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1506G>C; p.R502R; 1:230274510-230274510	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1602G>T; p.V534V; 1:230279344-230279344	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.735G>T; p.R245S; 1:230246068-230246068	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1642G>A; p.G548R; 1:230279384-230279384	breast	carcinoma	Substitution - Missense
c.734G>A; p.R245K; 1:230246067-230246067	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1185C>A; p.F395L; 1:230262621-230262621	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.603A>T; p.R201R; 1:230236721-230236721	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185C>A; p.F395L; 1:230262621-230262621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.830A>G; p.N277S; 1:230249196-230249196	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1659G>A; p.E553E; 1:230279401-230279401	skin	malignant_melanoma	Substitution - coding silent
c.1137A>G; p.R379R; 1:230262573-230262573	breast	carcinoma	Substitution - coding silent
c.137A>G; p.N46S; 1:230178228-230178228	breast	carcinoma	Substitution - Missense
c.1185C>A; p.F395L; 1:230262621-230262621	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.337C>T; p.R113*; 1:230203253-230203253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.337C>T; p.R113*; 1:230203253-230203253	skin	malignant_melanoma	Substitution - Nonsense
c.187G>C; p.E63Q; 1:230178278-230178278	urinary_tract; bladder	carcinoma	Substitution - Missense
c.337C>T; p.R113*; 1:230203253-230203253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.940G>A; p.D314N; 1:230250491-230250491	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1562A>C; p.K521T; 1:230279304-230279304	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.460A>T; p.R154W; 1:230236099-230236099	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.516C>G; p.I172M; 1:230236395-230236395	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1185C>G; p.F395L; 1:230262621-230262621	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1379T>A; p.L460*; 1:230265306-230265306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.981G>A; p.M327I; 1:230250532-230250532	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.240C>T; p.D80D; 1:230203156-230203156	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1544delA; p.N516fs*16; 1:230274548-230274548	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1680G>A; p.S560S; 1:230279422-230279422	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1382G>T; p.G461V; 1:230265309-230265309	pancreas	carcinoma	Substitution - Missense
c.418G>A; p.V140M; 1:230236057-230236057	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1016C>T; p.S339L; 1:230255224-230255224	skin	malignant_melanoma	Substitution - Missense
c.873G>A; p.R291R; 1:230249239-230249239	breast	carcinoma	Substitution - coding silent
c.1398T>A; p.G466G; 1:230265325-230265325	ovary	other; neoplasm	Substitution - coding silent
c.907A>G; p.T303A; 1:230250458-230250458	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1106T>C; p.F369S; 1:230255314-230255314	large_intestine; colon	carcinoma	Substitution - Missense
c.1106T>C; p.F369S; 1:230255314-230255314	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1075C>T; p.H359Y; 1:230255283-230255283	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1330G>A; p.D444N; 1:230265257-230265257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.728A>C; p.E243A; 1:230243426-230243426	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.229C>T; p.R77W; 1:230203145-230203145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1354C>G; p.Q452E; 1:230265281-230265281	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1488C>T; p.C496C; 1:230274492-230274492	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.817G>T; p.G273C; 1:230246150-230246150	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.558C>T; p.L186L; 1:230236676-230236676	skin	malignant_melanoma	Substitution - coding silent
c.953T>C; p.F318S; 1:230250504-230250504	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]