Entrez Gene

Basic Information
Gene ID	824
Name	CAPN2
Synonymous	calpain 2, (m/II) large subunit;CAPN2;calpain 2, (m/II) large subunit
Definition	CANP 2\|M-calpain\|calcium-activated neutral proteinase 2\|calpain 2, large [catalytic] subunit\|calpain 2, large subunit\|calpain M-type\|calpain large polypeptide L2\|calpain, large polypeptide L2\|calpain-2 catalytic subunit\|calpain-2 large subunit\|millimolar-
Position	1q41-q42
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1722C>T; p.I574I; 1:223766398-223766398	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1532C>T; p.A511V; 1:223761583-223761583	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1017G>T; p.E339D; 1:223752838-223752838	pancreas	carcinoma	Substitution - Missense
c.1017G>T; p.E339D; 1:223752838-223752838	pancreas	carcinoma	Substitution - Missense
c.712C>T; p.L238F; 1:223747148-223747148	skin	malignant_melanoma	Substitution - Missense
c.1412T>C; p.V471A; 1:223759364-223759364	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1427A>G; p.K476R; 1:223759379-223759379	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.952C>T; p.R318W; 1:223752049-223752049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1548C>T; p.I516I; 1:223761599-223761599	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.722C>G; p.S241C; 1:223747158-223747158	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.952C>T; p.R318W; 1:223752049-223752049	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.952C>T; p.R318W; 1:223752049-223752049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.498C>T; p.L166L; 1:223745377-223745377	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1356C>A; p.F452L; 1:223759308-223759308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.58T>C; p.S20P; 1:223712698-223712698	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.58T>C; p.S20P; 1:223712698-223712698	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.58T>C; p.S20P; 1:223712698-223712698	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1453G>A; p.V485M; 1:223759405-223759405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1121G>A; p.C374Y; 1:223752942-223752942	breast	carcinoma	Substitution - Missense
c.1306G>A; p.V436I; 1:223757369-223757369	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 1:223750891-223750891	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.980C>G; p.S327C; 1:223752801-223752801	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.281G>A; p.R94H; 1:223717805-223717805	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.281G>A; p.R94H; 1:223717805-223717805	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1305G>T; p.E435D; 1:223755649-223755649	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281G>A; p.R94H; 1:223717805-223717805	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1623G>C; p.L541F; 1:223762242-223762242	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.589delG; p.G198fs*20; 1:223747025-223747025	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1365G>A; p.T455T; 1:223759317-223759317	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.589delG; p.G198fs*20; 1:223747025-223747025	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.458T>A; p.V153E; 1:223745337-223745337	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.589delG; p.G198fs*20; 1:223747025-223747025	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1125G>T; p.R375S; 1:223752946-223752946	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.442G>T; p.E148*; 1:223745321-223745321	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1846G>A; p.V616I; 1:223770468-223770468	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1099C>T; p.R367W; 1:223752920-223752920	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.320T>A; p.L107Q; 1:223744112-223744112	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1099C>T; p.R367W; 1:223752920-223752920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.155C>A; p.P52Q; 1:223712795-223712795	breast	carcinoma	Substitution - Missense
c.1162C>T; p.L388L; 1:223755506-223755506	skin	malignant_melanoma	Substitution - coding silent
c.1958_1959insT; p.Q654fs*7; 1:223771863-223771864	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.1842C>T; p.I614I; 1:223770464-223770464	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.432G>A; p.W144*; 1:223745311-223745311	breast	carcinoma	Substitution - Nonsense
c.2045A>G; p.E682G; 1:223772205-223772205	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.441C>T; p.G147G; 1:223745320-223745320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.905C>T; p.P302L; 1:223752002-223752002	skin	malignant_melanoma	Substitution - Missense
c.1624G>A; p.A542T; 1:223762243-223762243	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1616C>T; p.A539V; 1:223762235-223762235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.66C>G; p.D22E; 1:223712706-223712706	thyroid	other; neoplasm	Substitution - Missense
c.66C>G; p.D22E; 1:223712706-223712706	thyroid	other; neoplasm	Substitution - Missense
c.66C>G; p.D22E; 1:223712706-223712706	thyroid	other; neoplasm	Substitution - Missense
c.66C>G; p.D22E; 1:223712706-223712706	thyroid	other; neoplasm	Substitution - Missense
c.338C>T; p.S113F; 1:223744130-223744130	skin	malignant_melanoma	Substitution - Missense
c.1249C>T; p.R417W; 1:223755593-223755593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1629A>T; p.G543G; 1:223762248-223762248	liver	carcinoma	Substitution - coding silent
c.1062G>A; p.K354K; 1:223752883-223752883	breast	carcinoma	Substitution - coding silent
c.1423T>C; p.F475L; 1:223759375-223759375	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.900C>G; p.N300K; 1:223751997-223751997	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1938C>T; p.I646I; 1:223771843-223771843	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1762_1763GG>AA; p.G588K; 1:223769847-223769848	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1938C>T; p.I646I; 1:223771843-223771843	breast	carcinoma	Substitution - coding silent
c.1237C>T; p.Q413*; 1:223755581-223755581	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.932A>G; p.E311G; 1:223752029-223752029	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1585G>A; p.D529N; 1:223762204-223762204	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.613G>A; p.E205K; 1:223747049-223747049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.729+1G>A; p.?; 1:223747166-223747166	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.729+1G>A; p.?; 1:223747166-223747166	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.808G>A; p.E270K; 1:223749117-223749117	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1354T>G; p.F452V; 1:223759306-223759306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1654G>C; p.E552Q; 1:223764171-223764171	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2044G>A; p.E682K; 1:223772204-223772204	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.84C>G; p.L28L; 1:223712724-223712724	central_nervous_system; brain	glioma	Substitution - coding silent
c.922G>A; p.D308N; 1:223752019-223752019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.145C>A; p.P49T; 1:223712785-223712785	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1700T>C; p.I567T; 1:223766376-223766376	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1382G>A; p.R461H; 1:223759334-223759334	skin; neck	malignant_melanoma	Substitution - Missense
c.1990C>G; p.R664G; 1:223771895-223771895	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.953G>A; p.R318Q; 1:223752050-223752050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1882C>T; p.R628W; 1:223770504-223770504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.612C>T; p.F204F; 1:223747048-223747048	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1050C>T; p.S350S; 1:223752871-223752871	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.612C>T; p.F204F; 1:223747048-223747048	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.612C>T; p.F204F; 1:223747048-223747048	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1537G>A; p.D513N; 1:223761588-223761588	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1537G>A; p.D513N; 1:223761588-223761588	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.816T>A; p.V272V; 1:223750892-223750892	thyroid	other; neoplasm	Substitution - coding silent
c.1670T>C; p.L557P; 1:223764187-223764187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1670T>C; p.L557P; 1:223764187-223764187	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1216A>C; p.T406P; 1:223755560-223755560	breast	carcinoma	Substitution - Missense
c.1065G>A; p.K355K; 1:223752886-223752886	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - coding silent
c.1009C>T; p.R337C; 1:223752830-223752830	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1253G>A; p.R418Q; 1:223755597-223755597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1823_1824+2delAAGT; p.?; 1:223769908-223769911	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1225G>A; p.V409M; 1:223755569-223755569	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1468G>A; p.E490K; 1:223759420-223759420	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1421G>A; p.R474H; 1:223759373-223759373	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.399A>C; p.E133D; 1:223744191-223744191	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1702A>C; p.K568Q; 1:223766378-223766378	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1702A>C; p.K568Q; 1:223766378-223766378	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.410G>A; p.G137E; 1:223744202-223744202	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1151A>G; p.N384S; 1:223755495-223755495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1752A>C; p.L584L; 1:223766428-223766428	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1840A>C; p.I614L; 1:223770462-223770462	liver	carcinoma	Substitution - Missense
c.306G>A; p.L102L; 1:223717830-223717830	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1840A>C; p.I614L; 1:223770462-223770462	liver	carcinoma	Substitution - Missense
c.306G>A; p.L102L; 1:223717830-223717830	thyroid	other; neoplasm	Substitution - coding silent
c.2003G>A; p.R668Q; 1:223771908-223771908	breast	carcinoma	Substitution - Missense
c.1209C>T; p.S403S; 1:223755553-223755553	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.513C>T; p.A171A; 1:223745392-223745392	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.439G>A; p.G147S; 1:223745318-223745318	prostate	carcinoma	Substitution - Missense
c.513C>T; p.A171A; 1:223745392-223745392	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.496C>A; p.L166I; 1:223745375-223745375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.513C>T; p.A171A; 1:223745392-223745392	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.513C>T; p.A171A; 1:223745392-223745392	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.567C>T; p.N189N; 1:223747003-223747003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.787G>A; p.A263T; 1:223749096-223749096	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1761C>T; p.D587D; 1:223769846-223769846	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1761C>T; p.D587D; 1:223769846-223769846	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1761C>T; p.D587D; 1:223769846-223769846	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.861C>A; p.P287P; 1:223750937-223750937	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.754G>A; p.A252T; 1:223749063-223749063	breast	carcinoma	Substitution - Missense
c.535G>A; p.A179T; 1:223745414-223745414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.535G>A; p.A179T; 1:223745414-223745414	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.564C>G; p.I188M; 1:223747000-223747000	breast	carcinoma	Substitution - Missense
c.535G>A; p.A179T; 1:223745414-223745414	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.480C>T; p.T160T; 1:223745359-223745359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1628G>T; p.G543V; 1:223762247-223762247	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.123G>A; p.E41E; 1:223712763-223712763	pancreas	carcinoma	Substitution - coding silent
c.807C>T; p.A269A; 1:223749116-223749116	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.854G>A; p.R285Q; 1:223750930-223750930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.854G>A; p.R285Q; 1:223750930-223750930	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1112C>T; p.A371V; 1:223752933-223752933	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1112C>T; p.A371V; 1:223752933-223752933	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1112C>T; p.A371V; 1:223752933-223752933	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1254G>A; p.R418R; 1:223755598-223755598	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1278G>A; p.M426I; 1:223755622-223755622	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1582G>A; p.D528N; 1:223762201-223762201	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1842C>A; p.I614I; 1:223770464-223770464	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1649C>T; p.A550V; 1:223764166-223764166	pancreas	carcinoma	Substitution - Missense
c.233_234ins14; p.E80fs*42; 1:223712873-223712874	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1844A>G; p.D615G; 1:223770466-223770466	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.495G>A; p.L165L; 1:223745374-223745374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.593G>T; p.G198V; 1:223747029-223747029	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1915C>T; p.P639S; 1:223771820-223771820	skin	malignant_melanoma	Substitution - Missense
c.1805C>T; p.T602M; 1:223769890-223769890	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.859C>A; p.P287T; 1:223750935-223750935	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1529+10_1529+17delTTGGTCCC; p.?; 1:223759491-223759498	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown

COSMIC somatic mutation [Top]