Canonical Allele Identifier: CA362183437

Gene: GABRG2

Linked Data

• COSMIC: COSM6170317
• MyVariant Identifiers: chr5:g.161580172A>C (hg19) ; chr5:g.162153166A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153166A>C , CM000667.2:g.162153166A>C	GRCh38
NC_000005.9:g.161580172A>C , CM000667.1:g.161580172A>C	GRCh37
NC_000005.8:g.161512750A>C	NCBI36
NG_009290.1:g.90525A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1227A>C
ENST00000361925.9:c.1322A>C	ENSP00000354651.5:p.Asp441Ala
ENST00000523372.2:c.1285A>C
ENST00000638253.1:n.480A>C
ENST00000638552.1:c.917A>C	ENSP00000491763.1:p.Asp306Ala
ENST00000638660.1:c.941A>C	ENSP00000492869.1:p.Asp314Ala
ENST00000638772.1:c.*3823A>C	ENSP00000491557.1:n.*3823A>C
ENST00000638877.1:c.1103A>C
ENST00000639046.1:c.593A>C	ENSP00000492659.1:p.Asp198Ala
ENST00000639111.2:c.1202A>C	ENSP00000492125.2:p.Asp401Ala
ENST00000639213.2:c.1226A>C MANE Select	ENSP00000491909.2:p.Asp409Ala
ENST00000639278.1:c.1889A>C	ENSP00000491958.1:n.1889A>C
ENST00000639384.1:c.*1407A>C	ENSP00000491240.1:n.*1407A>C
ENST00000639424.1:c.*426A>C	ENSP00000491245.1:n.*426A>C
ENST00000639683.1:c.1160A>C	ENSP00000492581.1:p.Asp387Ala
ENST00000639975.1:c.1136A>C	ENSP00000492096.1:p.Asp379Ala
ENST00000640500.1:n.500A>C
ENST00000640739.1:n.6173A>C
ENST00000640910.1:c.664A>C
ENST00000640985.1:c.1139A>C	ENSP00000492293.1:p.Asp380Ala
ENST00000641017.1:c.1295A>C	ENSP00000493461.1:p.Asp432Ala
ENST00000356592.7:c.1226A>C	ENSP00000349000.3:p.Asp409Ala
ENST00000361925.8:c.1202A>C	ENSP00000354651.4:p.Asp401Ala
ENST00000414552.6:c.1346A>C	ENSP00000410732.2:p.Asp449Ala
ENST00000522990.5:c.*804A>C	ENSP00000430732.1:n.*804A>C
ENST00000523372.1:c.1323A>C	ENSP00000430124.1:n.1323A>C
NM_000816.3:c.1202A>C	NP_000807.2:p.Asp401Ala
NM_198903.2:c.1346A>C	NP_944493.2:p.Asp449Ala
NM_198904.2:c.1226A>C	NP_944494.1:p.Asp409Ala
NM_001375339.1:c.1217A>C	NP_001362268.1:p.Asp406Ala
NM_001375340.1:c.*60A>C	NP_001362269.1:n.*60A>C
NM_001375341.1:c.1223A>C	NP_001362270.1:p.Asp408Ala
NM_001375342.1:c.1199A>C	NP_001362271.1:p.Asp400Ala
NM_001375343.1:c.1322A>C	NP_001362272.1:p.Asp441Ala
NM_001375344.1:c.1265A>C	NP_001362273.1:p.Asp422Ala
NM_001375345.1:c.1136A>C	NP_001362274.1:p.Asp379Ala
NM_001375346.1:c.1160A>C	NP_001362275.1:p.Asp387Ala
NM_001375347.1:c.1139A>C	NP_001362276.1:p.Asp380Ala
NM_001375348.1:c.782A>C	NP_001362277.1:p.Asp261Ala
NM_001375349.1:c.917A>C	NP_001362278.1:p.Asp306Ala
NM_001375350.1:c.806A>C	NP_001362279.1:p.Asp269Ala
NM_198904.3:c.1226A>C	NP_944494.1:p.Asp409Ala
NM_198904.4:c.1226A>C MANE Select	NP_944494.1:p.Asp409Ala