Cancer metastasis database

Annotation category 5

Gene information

Gene ID 760
Symbol

CA2

Synonymous

CA-II|CAC|CAII|Car2|HEL-76

Full name

carbonic anhydrase II

Gene description

carbonate dehydratase II|carbonic anhydrase 2|carbonic anhydrase B|carbonic anhydrase C|carbonic dehydratase|epididymis luminal protein 76

Cytoband

8q22

Gene type

protein-coding

Synonymous

MIM:611492; HGNC:HGNC:1373; Ensembl:ENSG00000104267; HPRD:02023; Vega:OTTHUMG00000164944

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.290G>T; p.W97L; 8:85473750-85473750

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.152A>G; p.Y51C; 8:85465389-85465389

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.336G>T; p.K112N; 8:85473796-85473796

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.696G>A; p.G232G; 8:85480702-85480702

 skinmalignant_melanomaSubstitution - coding silent

c.676C>T; p.R226C; 8:85480682-85480682

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.676C>T; p.R226C; 8:85480682-85480682

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.676C>T; p.R226C; 8:85480682-85480682

 skinmalignant_melanomaSubstitution - Missense

c.697G>T; p.E233*; 8:85480703-85480703

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.556G>A; p.E186K; 8:85477168-85477168

 skinmalignant_melanomaSubstitution - Missense

c.649G>A; p.V217I; 8:85477261-85477261

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.649G>A; p.V217I; 8:85477261-85477261

 central_nervous_system; cerebellumprimitive_neuroectodermal_tumour-medulloblastoma; SHH_subtypeSubstitution - Missense

c.649G>A; p.V217I; 8:85477261-85477261

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.649G>A; p.V217I; 8:85477261-85477261

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.740C>T; p.A247V; 8:85480746-85480746

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.707C>A; p.P236H; 8:85480713-85480713

 stomachadenocarcinomaSubstitution - Missense

c.398C>T; p.A133V; 8:85474370-85474370

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.462G>A; p.P154P; 8:85475815-85475815

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.462G>A; p.P154P; 8:85475815-85475815

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.53A>C; p.K18T; 8:85465290-85465290

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.415G>A; p.G139R; 8:85474387-85474387

 skinmalignant_melanomaSubstitution - Missense

c.397G>A; p.A133T; 8:85474369-85474369

 skinmalignant_melanomaSubstitution - Missense

c.80G>A; p.R27H; 8:85465317-85465317

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.720_721delGG; p.M240fs*>21; 8:85480726-85480727

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.611A>T; p.E204V; 8:85477223-85477223

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.709G>A; p.E237K; 8:85480715-85480715

 skinmalignant_melanomaSubstitution - Missense

c.364C>T; p.H122Y; 8:85474336-85474336

 skinmalignant_melanomaSubstitution - Missense

c.783A>G; p.*261*; 8:85480789-85480789

 skinmalignant_melanomaSubstitution - coding silent

c.218C>A; p.S73Y; 8:85465455-85465455

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.658G>A; p.E220K; 8:85477270-85477270

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.214G>A; p.D72N; 8:85465451-85465451

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.539C>A; p.P180H; 8:85477151-85477151

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.539C>A; p.P180H; 8:85477151-85477151

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.269T>C; p.L90S; 8:85473729-85473729

 skinmalignant_melanomaSubstitution - Missense

c.672A>G; p.K224K; 8:85480678-85480678

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.494C>T; p.S165F; 8:85475847-85475847

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.697G>A; p.E233K; 8:85480703-85480703

 skin; neckmalignant_melanomaSubstitution - Missense

c.549C>T; p.L183L; 8:85477161-85477161

 skinmalignant_melanomaSubstitution - coding silent

c.244G>A; p.G82R; 8:85473704-85473704

 skinmalignant_melanomaSubstitution - Missense

c.535G>A; p.D179N; 8:85477147-85477147

 skinmalignant_melanomaSubstitution - Missense

c.133A>G; p.K45E; 8:85465370-85465370

 skinmalignant_melanomaSubstitution - Missense

c.765C>T; p.I255I; 8:85480771-85480771

 skinmalignant_melanomaSubstitution - coding silent

c.541C>T; p.R181C; 8:85477153-85477153

 skinmalignant_melanomaSubstitution - Missense

c.411T>C; p.P137P; 8:85474383-85474383

 skinmalignant_melanomaSubstitution - coding silent

c.283T>G; p.F95V; 8:85473743-85473743

 pancreascarcinomaSubstitution - Missense

c.637G>A; p.E213K; 8:85477249-85477249

 skin; scalpmalignant_melanomaSubstitution - Missense

c.434delT; p.L147fs*1; 8:85474406-85474406

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.434delT; p.L147fs*1; 8:85474406-85474406

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.434delT; p.L147fs*1; 8:85474406-85474406

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.434delT; p.L147fs*1; 8:85474406-85474406

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.581C>T; p.P194L; 8:85477193-85477193

 skinmalignant_melanomaSubstitution - Missense

c.550C>G; p.L184V; 8:85477162-85477162

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.288C>A; p.H96Q; 8:85473748-85473748

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.527C>T; p.T176I; 8:85477139-85477139

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.136C>A; p.P46T; 8:85465373-85465373

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.77A>G; p.E26G; 8:85465314-85465314

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.562T>C; p.L188L; 8:85477174-85477174

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.544G>C; p.G182R; 8:85477156-85477156

 breastcarcinomaSubstitution - Missense

c.544G>C; p.G182R; 8:85477156-85477156

 skinmalignant_melanomaSubstitution - Missense

c.484G>T; p.V162L; 8:85475837-85475837

 skinmalignant_melanomaSubstitution - Missense

c.396A>G; p.K132K; 8:85474368-85474368

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.744G>T; p.Q248H; 8:85480750-85480750

 breastcarcinomaSubstitution - Missense

c.22G>T; p.G8C; 8:85464103-85464103

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.393G>A; p.G131G; 8:85474365-85474365

 skinmalignant_melanomaSubstitution - coding silent

c.322A>T; p.T108S; 8:85473782-85473782

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.117G>T; p.K39N; 8:85465354-85465354

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.282C>A; p.H94Q; 8:85473742-85473742

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.35-6C>T; p.?; 8:85465266-85465266

 livercarcinomaUnknown

c.99C>T; p.I33I; 8:85465336-85465336

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.471G>A; p.Q157Q; 8:85475824-85475824

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.660G>T; p.E220D; 8:85477272-85477272

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.111_115delAGCCA; p.A38fs*2; 8:85465348-85465352

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.782A>G; p.*261*; 8:85480788-85480788

 skinmalignant_melanomaSubstitution - coding silent

c.416G>A; p.G139E; 8:85474388-85474388

 skinmalignant_melanomaSubstitution - Missense