Canonical Allele Identifier: CA1596380228

Gene: GABRG2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149112C= , CM000667.2:g.162149112C=	GRCh38
NC_000005.9:g.161576118C= , CM000667.1:g.161576118C=	GRCh37
NC_000005.8:g.161508696C=	NCBI36
NG_009290.1:g.86471C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.928C=
ENST00000361925.9:c.1047C=	ENSP00000354651.5:p.Ile349=
ENST00000522053.2:n.818C=
ENST00000523372.2:c.1010C=
ENST00000638253.1:n.181C=
ENST00000638552.1:c.642C=	ENSP00000491763.1:p.Ile214=
ENST00000638660.1:c.642C=	ENSP00000492869.1:p.Ile214=
ENST00000638772.1:c.927C=	ENSP00000491557.1:p.Ile309=
ENST00000638877.1:c.804C=
ENST00000639046.1:c.318C=	ENSP00000492659.1:p.Ile106=
ENST00000639111.2:c.927C=	ENSP00000492125.2:p.Ile309=
ENST00000639213.2:c.927C= MANE Select	ENSP00000491909.2:p.Ile309=
ENST00000639278.1:c.855C=	ENSP00000491958.1:p.Ile285=
ENST00000639384.1:c.927C=	ENSP00000491240.1:p.Ile309=
ENST00000639424.1:c.*127C=	ENSP00000491245.1:n.*127C=
ENST00000639683.1:c.861C=	ENSP00000492581.1:p.Ile287=
ENST00000639975.1:c.861C=	ENSP00000492096.1:p.Ile287=
ENST00000640500.1:n.225C=
ENST00000640574.1:c.642C=	ENSP00000491582.1:p.Ile214=
ENST00000640739.1:n.3458C=
ENST00000640910.1:c.365C=
ENST00000640985.1:c.840C=	ENSP00000492293.1:p.Ile280=
ENST00000641017.1:c.927C=	ENSP00000493461.1:p.Ile309=
ENST00000356592.7:c.927C=	ENSP00000349000.3:p.Ile309=
ENST00000361925.8:c.927C=	ENSP00000354651.4:p.Ile309=
ENST00000414552.6:c.1047C=	ENSP00000410732.2:p.Ile349=
ENST00000522053.1:c.642C=	ENSP00000430182.1:p.Ile214=
ENST00000522990.5:c.*529C=	ENSP00000430732.1:n.*529C=
ENST00000523372.1:c.1048C=	ENSP00000430124.1:n.1048C=
NM_000816.3:c.927C=	NP_000807.2:p.Ile309=
NM_198903.2:c.1047C=	NP_944493.2:p.Ile349=
NM_198904.2:c.927C=	NP_944494.1:p.Ile309=
NM_001375339.1:c.918C=	NP_001362268.1:p.Ile306=
NM_001375340.1:c.923-2618C=	NP_001362269.1:n.923-2618C=
NM_001375341.1:c.924C=	NP_001362270.1:p.Ile308=
NM_001375342.1:c.924C=	NP_001362271.1:p.Ile308=
NM_001375343.1:c.1047C=	NP_001362272.1:p.Ile349=
NM_001375344.1:c.966C=	NP_001362273.1:p.Ile322=
NM_001375345.1:c.861C=	NP_001362274.1:p.Ile287=
NM_001375346.1:c.861C=	NP_001362275.1:p.Ile287=
NM_001375347.1:c.840C=	NP_001362276.1:p.Ile280=
NM_001375348.1:c.507C=	NP_001362277.1:p.Ile169=
NM_001375349.1:c.642C=	NP_001362278.1:p.Ile214=
NM_001375350.1:c.507C=	NP_001362279.1:p.Ile169=
NM_198904.3:c.927C=	NP_944494.1:p.Ile309=
NM_198904.4:c.927C= MANE Select	NP_944494.1:p.Ile309=