Entrez Gene

Basic Information
Gene ID	3037
Name	HAS2

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.877C>T; p.H293Y; 8:121614891-121614891	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.717G>T; p.G239G; 8:121617117-121617117	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.289G>C; p.D97H; 8:121629052-121629052	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1601T>A; p.I534N; 8:121614167-121614167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.378T>C; p.D126D; 8:121628963-121628963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.18T>G; p.F6L; 8:121629323-121629323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1473T>C; p.G491G; 8:121614295-121614295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1473T>C; p.G491G; 8:121614295-121614295	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1473T>C; p.G491G; 8:121614295-121614295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.328A>G; p.T110A; 8:121629013-121629013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1346C>A; p.P449H; 8:121614422-121614422	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.516G>A; p.T172T; 8:121628825-121628825	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.516G>A; p.T172T; 8:121628825-121628825	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.516G>A; p.T172T; 8:121628825-121628825	pancreas	carcinoma	Substitution - coding silent
c.516G>A; p.T172T; 8:121628825-121628825	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.516G>A; p.T172T; 8:121628825-121628825	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.771T>G; p.S257R; 8:121614997-121614997	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1624A>G; p.K542E; 8:121614144-121614144	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1211G>T; p.W404L; 8:121614557-121614557	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1648_1649CT>AG; p.L550S; 8:121614119-121614120	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.616G>C; p.D206H; 8:121628725-121628725	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.616G>C; p.D206H; 8:121628725-121628725	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.616G>C; p.D206H; 8:121628725-121628725	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1534C>G; p.L512V; 8:121614234-121614234	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1552C>T; p.L518F; 8:121614216-121614216	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.213G>A; p.M71I; 8:121629128-121629128	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.221C>T; p.S74F; 8:121629120-121629120	skin	malignant_melanoma	Substitution - Missense
c.1334C>T; p.S445L; 8:121614434-121614434	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1009C>T; p.L337F; 8:121614759-121614759	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742T>C; p.Y248H; 8:121615026-121615026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1041G>A; p.W347*; 8:121614727-121614727	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.158delT; p.L53fs*19; 8:121629183-121629183	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.158delT; p.L53fs*19; 8:121629183-121629183	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.959G>A; p.R320Q; 8:121614809-121614809	kidney	other; neoplasm	Substitution - Missense
c.546C>A; p.C182*; 8:121628795-121628795	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.366G>A; p.G122G; 8:121628975-121628975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.416G>T; p.G139V; 8:121628925-121628925	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1057C>T; p.R353C; 8:121614711-121614711	skin	malignant_melanoma	Substitution - Missense
c.503C>T; p.S168L; 8:121628838-121628838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1135G>A; p.E379K; 8:121614633-121614633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117C>T; p.H373Y; 8:121614651-121614651	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1413T>A; p.I471I; 8:121614355-121614355	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1069T>C; p.S357P; 8:121614699-121614699	liver	carcinoma	Substitution - Missense
c.1497G>A; p.E499E; 8:121614271-121614271	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.357C>G; p.V119V; 8:121628984-121628984	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1199G>A; p.R400Q; 8:121614569-121614569	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.219_220insA; p.S74fs*42; 8:121629121-121629122	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.930C>A; p.S310R; 8:121614838-121614838	haematopoietic_and_lymphoid_tissue; breast	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.51C>T; p.L17L; 8:121629290-121629290	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.233C>A; p.P78H; 8:121629108-121629108	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.958C>T; p.R320W; 8:121614810-121614810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.956A>G; p.N319S; 8:121614812-121614812	haematopoietic_and_lymphoid_tissue; breast	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.154T>A; p.F52I; 8:121629187-121629187	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1345C>T; p.P449S; 8:121614423-121614423	skin; axilla	malignant_melanoma	Substitution - Missense
c.561G>T; p.W187C; 8:121628780-121628780	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.561G>T; p.W187C; 8:121628780-121628780	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1128G>T; p.M376I; 8:121614640-121614640	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.215A>G; p.K72R; 8:121629126-121629126	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.E154K; 8:121628881-121628881	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.719delG; p.G240fs*6; 8:121617115-121617115	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1001C>T; p.S334F; 8:121614767-121614767	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1159C>T; p.P387S; 8:121614609-121614609	ovary	carcinoma; adenocarcinoma	Substitution - Missense
c.394G>A; p.D132N; 8:121628947-121628947	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.464A>G; p.K155R; 8:121628877-121628877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.416G>A; p.G139D; 8:121628925-121628925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1067A>C; p.K356T; 8:121614701-121614701	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.416G>A; p.G139D; 8:121628925-121628925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1053G>C; p.Q351H; 8:121614715-121614715	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.108T>C; p.F36F; 8:121629233-121629233	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.997C>T; p.R333*; 8:121614771-121614771	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.390G>A; p.M130I; 8:121628951-121628951	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.282A>T; p.E94D; 8:121629059-121629059	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.997C>T; p.R333*; 8:121614771-121614771	skin	malignant_melanoma	Substitution - Nonsense
c.1176C>G; p.A392A; 8:121614592-121614592	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.267C>T; p.I89I; 8:121629074-121629074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1556A>G; p.Y519C; 8:121614212-121614212	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1198C>T; p.R400W; 8:121614570-121614570	liver	carcinoma	Substitution - Missense
c.443G>A; p.W148*; 8:121628898-121628898	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1353G>T; p.K451N; 8:121614415-121614415	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.652G>C; p.D218H; 8:121617182-121617182	urinary_tract; bladder	carcinoma	Substitution - Missense
c.87T>C; p.A29A; 8:121629254-121629254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.590C>T; p.A197V; 8:121628751-121628751	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.225A>G; p.L75L; 8:121629116-121629116	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1363A>T; p.I455F; 8:121614405-121614405	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.894T>G; p.D298E; 8:121614874-121614874	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.940G>A; p.D314N; 8:121614828-121614828	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1476G>C; p.V492V; 8:121614292-121614292	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1396T>C; p.S466P; 8:121614372-121614372	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1258A>C; p.K420Q; 8:121614510-121614510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.472G>A; p.G158S; 8:121628869-121628869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.472G>A; p.G158S; 8:121628869-121628869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.472G>A; p.G158S; 8:121628869-121628869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1589A>G; p.Y530C; 8:121614179-121614179	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.892_894delGAT; p.D298delD; 8:121614874-121614876	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1293C>T; p.I431I; 8:121614475-121614475	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1293C>T; p.I431I; 8:121614475-121614475	skin	malignant_melanoma	Substitution - coding silent
c.1640A>G; p.D547G; 8:121614128-121614128	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.811C>T; p.Q271*; 8:121614957-121614957	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.428C>A; p.S143*; 8:121628913-121628913	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.798A>G; p.I266M; 8:121614970-121614970	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1222C>T; p.L408F; 8:121614546-121614546	skin	malignant_melanoma	Substitution - Missense
c.628G>T; p.V210F; 8:121617206-121617206	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.174C>G; p.I58M; 8:121629167-121629167	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1330A>T; p.M444L; 8:121614438-121614438	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.410T>C; p.V137A; 8:121628931-121628931	skin	malignant_melanoma	Substitution - Missense
c.479C>G; p.T160R; 8:121628862-121628862	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1441G>T; p.V481L; 8:121614327-121614327	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.479C>G; p.T160R; 8:121628862-121628862	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.479C>G; p.T160R; 8:121628862-121628862	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.590C>A; p.A197D; 8:121628751-121628751	liver	carcinoma	Substitution - Missense
c.382C>A; p.L128I; 8:121628959-121628959	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1064G>A; p.S355N; 8:121614704-121614704	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1648C>T; p.L550F; 8:121614120-121614120	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1627G>A; p.G543R; 8:121614141-121614141	skin; trunk	malignant_melanoma	Substitution - Missense
c.559T>G; p.W187G; 8:121628782-121628782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.249A>C; p.K83N; 8:121629092-121629092	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1403G>A; p.R468K; 8:121614365-121614365	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1239C>T; p.V413V; 8:121614529-121614529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1617G>T; p.R539S; 8:121614151-121614151	breast	carcinoma	Substitution - Missense
c.1447G>A; p.V483I; 8:121614321-121614321	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1056C>A; p.T352T; 8:121614712-121614712	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.147T>C; p.Y49Y; 8:121629194-121629194	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1079G>T; p.R360L; 8:121614689-121614689	pancreas	carcinoma	Substitution - Missense
c.1078C>T; p.R360*; 8:121614690-121614690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1653T>A; p.D551E; 8:121614115-121614115	urinary_tract; bladder	carcinoma	Substitution - Missense
c.598G>A; p.A200T; 8:121628743-121628743	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1062G>A; p.W354*; 8:121614706-121614706	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.905A>G; p.Q302R; 8:121614863-121614863	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.417C>T; p.G139G; 8:121628924-121628924	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1294G>C; p.V432L; 8:121614474-121614474	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1428A>G; p.I476M; 8:121614340-121614340	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.253G>T; p.V85F; 8:121629088-121629088	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1155C>A; p.F385L; 8:121614613-121614613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.448A>T; p.N150Y; 8:121628893-121628893	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.503C>A; p.S168*; 8:121628838-121628838	thyroid	other; neoplasm	Substitution - Nonsense
c.1607A>C; p.K536T; 8:121614161-121614161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.640G>A; p.D214N; 8:121617194-121617194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.561G>A; p.W187*; 8:121628780-121628780	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.447G>T; p.K149N; 8:121628894-121628894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.561G>A; p.W187*; 8:121628780-121628780	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1249G>T; p.G417C; 8:121614519-121614519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.108T>A; p.F36L; 8:121629233-121629233	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1035C>T; p.L345L; 8:121614733-121614733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.608G>A; p.R203Q; 8:121628733-121628733	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1335G>A; p.S445S; 8:121614433-121614433	breast	carcinoma	Substitution - coding silent
c.1335G>A; p.S445S; 8:121614433-121614433	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.525C>A; p.V175V; 8:121628816-121628816	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1471G>T; p.G491C; 8:121614297-121614297	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.165A>G; p.S55S; 8:121629176-121629176	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1273A>T; p.S425C; 8:121614495-121614495	liver	carcinoma	Substitution - Missense
c.1273A>T; p.S425C; 8:121614495-121614495	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1062G>T; p.W354C; 8:121614706-121614706	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.138T>C; p.F46F; 8:121629203-121629203	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.799G>C; p.E267Q; 8:121614969-121614969	breast	carcinoma	Substitution - Missense
c.103C>T; p.Q35*; 8:121629238-121629238	lung	carcinoma; adenocarcinoma	Substitution - Nonsense

The somatic mutations from COSMIC database