| Gene ID | 2026 |
| Symbol | ENO2 |
| Synonymous | HEL-S-279|NSE |
| Full name | enolase 2 (gamma, neuronal) |
| Gene description | 2-phospho-D-glycerate hydro-lyase|2-phospho-D-glycerate hydrolyase|epididymis secretory protein Li 279|gamma-enolase|neural enolase|neuron specific gamma enolase|neuron-specific enolase|neurone-specific enolase |
| Cytoband | 12p13 |
| Gene type | protein-coding |
| Synonymous | MIM:131360; HGNC:HGNC:3353; Ensembl:ENSG00000111674; HPRD:00573; Vega:OTTHUMG00000168967 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.544A>C; p.M182L; 12:6918039-6918039 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.263A>T; p.E88V; 12:6917060-6917060 |
skin | malignant_melanoma | Substitution - Missense |
c.384G>T; p.L128L; 12:6917654-6917654 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.979C>A; p.R327S; 12:6921694-6921694 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.913T>C; p.S305P; 12:6921628-6921628 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.997G>A; p.E333K; 12:6921712-6921712 |
skin | malignant_melanoma | Substitution - Missense |
c.668_669CC>TT; p.A223V; 12:6919566-6919567 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.989G>A; p.R330Q; 12:6921704-6921704 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.385C>G; p.P129A; 12:6917655-6917655 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1159G>T; p.G387W; 12:6922147-6922147 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.385C>G; p.P129A; 12:6917655-6917655 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1173C>G; p.G391G; 12:6922161-6922161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1173C>G; p.G391G; 12:6922161-6922161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1173C>G; p.G391G; 12:6922161-6922161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1173C>G; p.G391G; 12:6922161-6922161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1173C>G; p.G391G; 12:6922161-6922161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1173C>G; p.G391G; 12:6922161-6922161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1069T>G; p.C357G; 12:6922057-6922057 |
breast | carcinoma | Substitution - Missense |
c.1179C>G; p.I393M; 12:6922346-6922346 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1179C>G; p.I393M; 12:6922346-6922346 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.221C>T; p.A74V; 12:6916710-6916710 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.221C>T; p.A74V; 12:6916710-6916710 |
skin | malignant_melanoma | Substitution - Missense |
c.181G>A; p.G61S; 12:6916512-6916512 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1047G>C; p.S349S; 12:6921762-6921762 |
thyroid | other; neoplasm | Substitution - coding silent |
c.720C>T; p.I240I; 12:6919618-6919618 |
ovary | other; neoplasm | Substitution - coding silent |
c.720C>T; p.I240I; 12:6919618-6919618 |
ovary | other; neoplasm | Substitution - coding silent |
c.1173C>A; p.G391G; 12:6922161-6922161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.21G>A; p.W7*; 12:6915853-6915853 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.21G>A; p.W7*; 12:6915853-6915853 |
liver | carcinoma | Substitution - Nonsense |
c.21G>A; p.W7*; 12:6915853-6915853 |
liver | carcinoma | Substitution - Nonsense |
c.3G>A; p.M1I; 12:6915835-6915835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.833C>T; p.A278V; 12:6919731-6919731 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1007C>T; p.A336V; 12:6921722-6921722 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1193delC; p.P398fs*14; 12:6922360-6922360 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - Frameshift |
c.1145C>T; p.A382V; 12:6922133-6922133 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.865+1G>A; p.?; 12:6919764-6919764 |
liver | carcinoma | Unknown |
c.865+1G>A; p.?; 12:6919764-6919764 |
liver | carcinoma | Unknown |
c.5C>T; p.S2F; 12:6915837-6915837 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.758G>A; p.R253H; 12:6919656-6919656 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1134C>A; p.D378E; 12:6922122-6922122 |
thyroid | other; neoplasm | Substitution - Missense |
c.547C>T; p.R183*; 12:6918042-6918042 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.129C>T; p.I43I; 12:6916460-6916460 |
kidney | other; neoplasm | Substitution - coding silent |
c.559G>C; p.E187Q; 12:6918054-6918054 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.13A>C; p.K5Q; 12:6915845-6915845 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.692T>C; p.I231T; 12:6919590-6919590 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.692T>C; p.I231T; 12:6919590-6919590 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1161G>A; p.G387G; 12:6922149-6922149 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.236G>A; p.S79N; 12:6916725-6916725 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.841C>T; p.Q281*; 12:6919739-6919739 |
skin | malignant_melanoma | Substitution - Nonsense |
c.95G>A; p.R32Q; 12:6916426-6916426 |
oesophagus | carcinoma | Substitution - Missense |
c.72C>G; p.L24L; 12:6915904-6915904 |
pancreas | carcinoma | Substitution - coding silent |
c.1042G>A; p.G348S; 12:6921757-6921757 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.543C>A; p.A181A; 12:6918038-6918038 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1195T>C; p.C399R; 12:6922362-6922362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.769T>C; p.Y257H; 12:6919667-6919667 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.769T>C; p.Y257H; 12:6919667-6919667 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.769T>C; p.Y257H; 12:6919667-6919667 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.333C>T; p.I111I; 12:6917603-6917603 |
skin | malignant_melanoma | Substitution - coding silent |
c.443C>T; p.P148L; 12:6917713-6917713 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.432C>T; p.I144I; 12:6917702-6917702 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.123G>T; p.T41T; 12:6916454-6916454 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.196G>A; p.V66M; 12:6916685-6916685 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.911G>T; p.W304L; 12:6921626-6921626 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.173T>C; p.L58S; 12:6916504-6916504 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.176G>A; p.G59D; 12:6916507-6916507 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |