Canonical Allele Identifier: CA131117677

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1311452
• ClinVar RCV Id: RCV001752435 ; RCV002540429
• dbSNP Id: rs904388241
• gnomAD v2: 5-161580307-G-A
• gnomAD v4: 5-162153301-G-A
• COSMIC: COSM3613600
• MyVariant Identifiers: chr5:g.161580307G>A (hg19) ; chr5:g.162153301G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153301G>A , CM000667.2:g.162153301G>A	GRCh38
NC_000005.9:g.161580307G>A , CM000667.1:g.161580307G>A	GRCh37
NC_000005.8:g.161512885G>A	NCBI36
NG_009290.1:g.90660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1362G>A
ENST00000361925.9:c.1457G>A	ENSP00000354651.5:p.Arg486Gln
ENST00000523372.2:c.1420G>A
ENST00000638253.1:n.615G>A
ENST00000638552.1:c.1052G>A	ENSP00000491763.1:p.Arg351Gln
ENST00000638660.1:c.1076G>A	ENSP00000492869.1:p.Arg359Gln
ENST00000638772.1:c.*3958G>A	ENSP00000491557.1:n.*3958G>A
ENST00000638877.1:c.1238G>A
ENST00000639046.1:c.728G>A	ENSP00000492659.1:p.Arg243Gln
ENST00000639111.2:c.1337G>A	ENSP00000492125.2:p.Arg446Gln
ENST00000639213.2:c.1361G>A MANE Select	ENSP00000491909.2:p.Arg454Gln
ENST00000639278.1:c.2024G>A	ENSP00000491958.1:n.2024G>A
ENST00000639384.1:c.*1542G>A	ENSP00000491240.1:n.*1542G>A
ENST00000639424.1:c.*561G>A	ENSP00000491245.1:n.*561G>A
ENST00000639683.1:c.1295G>A	ENSP00000492581.1:p.Arg432Gln
ENST00000639975.1:c.1271G>A	ENSP00000492096.1:p.Arg424Gln
ENST00000640500.1:n.635G>A
ENST00000640739.1:n.6308G>A
ENST00000640910.1:c.799G>A
ENST00000640985.1:c.1274G>A	ENSP00000492293.1:p.Arg425Gln
ENST00000641017.1:c.1430G>A	ENSP00000493461.1:p.Arg477Gln
ENST00000356592.7:c.1361G>A	ENSP00000349000.3:p.Arg454Gln
ENST00000361925.8:c.1337G>A	ENSP00000354651.4:p.Arg446Gln
ENST00000414552.6:c.1481G>A	ENSP00000410732.2:p.Arg494Gln
ENST00000522990.5:c.*939G>A	ENSP00000430732.1:n.*939G>A
ENST00000523372.1:c.1458G>A	ENSP00000430124.1:n.1458G>A
NM_000816.3:c.1337G>A	NP_000807.2:p.Arg446Gln
NM_198903.2:c.1481G>A	NP_944493.2:p.Arg494Gln
NM_198904.2:c.1361G>A	NP_944494.1:p.Arg454Gln
NM_001375339.1:c.1352G>A	NP_001362268.1:p.Arg451Gln
NM_001375340.1:c.*195G>A	NP_001362269.1:n.*195G>A
NM_001375341.1:c.1358G>A	NP_001362270.1:p.Arg453Gln
NM_001375342.1:c.1334G>A	NP_001362271.1:p.Arg445Gln
NM_001375343.1:c.1457G>A	NP_001362272.1:p.Arg486Gln
NM_001375344.1:c.1400G>A	NP_001362273.1:p.Arg467Gln
NM_001375345.1:c.1271G>A	NP_001362274.1:p.Arg424Gln
NM_001375346.1:c.1295G>A	NP_001362275.1:p.Arg432Gln
NM_001375347.1:c.1274G>A	NP_001362276.1:p.Arg425Gln
NM_001375348.1:c.917G>A	NP_001362277.1:p.Arg306Gln
NM_001375349.1:c.1052G>A	NP_001362278.1:p.Arg351Gln
NM_001375350.1:c.941G>A	NP_001362279.1:p.Arg314Gln
NM_198904.3:c.1361G>A	NP_944494.1:p.Arg454Gln
NM_198904.4:c.1361G>A MANE Select	NP_944494.1:p.Arg454Gln