Canonical Allele Identifier: CA447610247

Gene: GABRG2

Linked Data

• dbSNP Id: rs1419240583
• gnomAD v2: 5-161576148-C-T
• gnomAD v4: 5-162149142-C-T
• MyVariant Identifiers: chr5:g.161576148C>T (hg19) ; chr5:g.162149142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149142C>T , CM000667.2:g.162149142C>T	GRCh38
NC_000005.9:g.161576148C>T , CM000667.1:g.161576148C>T	GRCh37
NC_000005.8:g.161508726C>T	NCBI36
NG_009290.1:g.86501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.958C>T
ENST00000361925.9:c.1077C>T	ENSP00000354651.5:p.Ser359=
ENST00000522053.2:n.848C>T
ENST00000523372.2:c.1040C>T
ENST00000638253.1:n.211C>T
ENST00000638552.1:c.672C>T	ENSP00000491763.1:p.Ser224=
ENST00000638660.1:c.672C>T	ENSP00000492869.1:p.Ser224=
ENST00000638772.1:c.957C>T	ENSP00000491557.1:p.Ser319=
ENST00000638877.1:c.834C>T
ENST00000639046.1:c.348C>T	ENSP00000492659.1:p.Ser116=
ENST00000639111.2:c.957C>T	ENSP00000492125.2:p.Ser319=
ENST00000639213.2:c.957C>T MANE Select	ENSP00000491909.2:p.Ser319=
ENST00000639278.1:c.885C>T	ENSP00000491958.1:p.Ser295=
ENST00000639384.1:c.957C>T	ENSP00000491240.1:p.Ser319=
ENST00000639424.1:c.*157C>T	ENSP00000491245.1:n.*157C>T
ENST00000639683.1:c.891C>T	ENSP00000492581.1:p.Ser297=
ENST00000639975.1:c.891C>T	ENSP00000492096.1:p.Ser297=
ENST00000640500.1:n.255C>T
ENST00000640574.1:c.672C>T	ENSP00000491582.1:p.Ser224=
ENST00000640739.1:n.3488C>T
ENST00000640910.1:c.395C>T
ENST00000640985.1:c.870C>T	ENSP00000492293.1:p.Ser290=
ENST00000641017.1:c.957C>T	ENSP00000493461.1:p.Ser319=
ENST00000356592.7:c.957C>T	ENSP00000349000.3:p.Ser319=
ENST00000361925.8:c.957C>T	ENSP00000354651.4:p.Ser319=
ENST00000414552.6:c.1077C>T	ENSP00000410732.2:p.Ser359=
ENST00000522990.5:c.*559C>T	ENSP00000430732.1:n.*559C>T
ENST00000523372.1:c.1078C>T	ENSP00000430124.1:n.1078C>T
NM_000816.3:c.957C>T	NP_000807.2:p.Ser319=
NM_198903.2:c.1077C>T	NP_944493.2:p.Ser359=
NM_198904.2:c.957C>T	NP_944494.1:p.Ser319=
NM_001375339.1:c.948C>T	NP_001362268.1:p.Ser316=
NM_001375340.1:c.923-2588C>T	NP_001362269.1:n.923-2588C>T
NM_001375341.1:c.954C>T	NP_001362270.1:p.Ser318=
NM_001375342.1:c.954C>T	NP_001362271.1:p.Ser318=
NM_001375343.1:c.1077C>T	NP_001362272.1:p.Ser359=
NM_001375344.1:c.996C>T	NP_001362273.1:p.Ser332=
NM_001375345.1:c.891C>T	NP_001362274.1:p.Ser297=
NM_001375346.1:c.891C>T	NP_001362275.1:p.Ser297=
NM_001375347.1:c.870C>T	NP_001362276.1:p.Ser290=
NM_001375348.1:c.537C>T	NP_001362277.1:p.Ser179=
NM_001375349.1:c.672C>T	NP_001362278.1:p.Ser224=
NM_001375350.1:c.537C>T	NP_001362279.1:p.Ser179=
NM_198904.3:c.957C>T	NP_944494.1:p.Ser319=
NM_198904.4:c.957C>T MANE Select	NP_944494.1:p.Ser319=