Canonical Allele Identifier: CA362183132

Gene: GABRG2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162093965G>T , CM000667.2:g.162093965G>T	GRCh38
NC_000005.9:g.161520971G>T , CM000667.1:g.161520971G>T	GRCh37
NC_000005.8:g.161453549G>T	NCBI36
NG_009290.1:g.31324G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198904.4:c.245G>T MANE Select	NP_944494.1:p.Arg82Leu
ENST00000639213.2:c.245G>T MANE Select	ENSP00000491909.2:p.Arg82Leu
NM_000816.3:c.245G>T	NP_000807.2:p.Arg82Leu
NM_001375339.1:c.236G>T	NP_001362268.1:p.Arg79Leu
NM_001375340.1:c.245G>T	NP_001362269.1:p.Arg82Leu
NM_001375341.1:c.245G>T	NP_001362270.1:p.Arg82Leu
NM_001375342.1:c.245G>T	NP_001362271.1:p.Arg82Leu
NM_001375343.1:c.245G>T	NP_001362272.1:p.Arg82Leu
NM_001375344.1:c.245G>T	NP_001362273.1:p.Arg82Leu
NM_001375345.1:c.179G>T	NP_001362274.1:p.Arg60Leu
NM_001375346.1:c.179G>T	NP_001362275.1:p.Arg60Leu
NM_001375347.1:c.158G>T	NP_001362276.1:p.Arg53Leu
NM_001375348.1:c.-114G>T	NP_001362277.1:n.-114G>T
NM_001375349.1:c.-41G>T	NP_001362278.1:n.-41G>T
NM_001375350.1:c.-114G>T	NP_001362279.1:n.-114G>T
NM_198903.2:c.245G>T	NP_944493.2:p.Arg82Leu
NM_198904.2:c.245G>T	NP_944494.1:p.Arg82Leu
NM_198904.3:c.245G>T	NP_944494.1:p.Arg82Leu
ENST00000356592.7:c.245G>T	ENSP00000349000.3:p.Arg82Leu
ENST00000356592.8:c.207G>T
ENST00000361925.8:c.245G>T	ENSP00000354651.4:p.Arg82Leu
ENST00000361925.9:c.245G>T	ENSP00000354651.5:p.Arg82Leu
ENST00000414552.6:c.245G>T	ENSP00000410732.2:p.Arg82Leu
ENST00000522990.5:c.245G>T	ENSP00000430732.1:p.Arg82Leu
ENST00000523372.1:c.366G>T	ENSP00000430124.1:n.366G>T
ENST00000523372.2:c.328G>T
ENST00000638552.1:c.-41G>T	ENSP00000491763.1:n.-41G>T
ENST00000638660.1:c.-41G>T	ENSP00000492869.1:n.-41G>T
ENST00000638772.1:c.245G>T	ENSP00000491557.1:p.Arg82Leu
ENST00000638782.1:n.307G>T
ENST00000638877.1:c.184G>T
ENST00000639046.1:c.23-9924G>T	ENSP00000492659.1:n.23-9924G>T
ENST00000639111.2:c.245G>T	ENSP00000492125.2:p.Arg82Leu
ENST00000639278.1:c.173G>T	ENSP00000491958.1:p.Arg58Leu
ENST00000639384.1:c.245G>T	ENSP00000491240.1:p.Arg82Leu
ENST00000639424.1:c.107+25859G>T	ENSP00000491245.1:n.107+25859G>T
ENST00000639549.1:n.469G>T
ENST00000639554.1:n.205G>T
ENST00000639683.1:c.179G>T	ENSP00000492581.1:p.Arg60Leu
ENST00000639975.1:c.179G>T	ENSP00000492096.1:p.Arg60Leu
ENST00000640574.1:c.-41G>T	ENSP00000491582.1:n.-41G>T
ENST00000640739.1:n.205G>T
ENST00000640757.1:c.251G>T	ENSP00000492329.1:p.Arg84Leu
ENST00000640910.1:c.70-9924G>T
ENST00000640985.1:c.158G>T	ENSP00000492293.1:p.Arg53Leu
ENST00000641017.1:c.245G>T	ENSP00000493461.1:p.Arg82Leu