Canonical Allele Identifier: CA1596377194

Gene: GABRG2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162142313T= , CM000667.2:g.162142313T=	GRCh38
NC_000005.9:g.161569319T= , CM000667.1:g.161569319T=	GRCh37
NC_000005.8:g.161501897T=	NCBI36
NG_009290.1:g.79672T=

Transcript Alleles

HGVS	Amino-acid Change
NM_198904.4:c.919T= MANE Select	NP_944494.1:p.Leu307=
ENST00000639213.2:c.919T= MANE Select	ENSP00000491909.2:p.Leu307=
NM_000816.3:c.919T=	NP_000807.2:p.Leu307=
NM_001375339.1:c.910T=	NP_001362268.1:p.Leu304=
NM_001375340.1:c.919T=	NP_001362269.1:p.Leu307=
NM_001375341.1:c.916T=	NP_001362270.1:p.Leu306=
NM_001375342.1:c.916T=	NP_001362271.1:p.Leu306=
NM_001375343.1:c.1039T=	NP_001362272.1:p.Leu347=
NM_001375344.1:c.958T=	NP_001362273.1:p.Leu320=
NM_001375345.1:c.853T=	NP_001362274.1:p.Leu285=
NM_001375346.1:c.853T=	NP_001362275.1:p.Leu285=
NM_001375347.1:c.832T=	NP_001362276.1:p.Leu278=
NM_001375348.1:c.499T=	NP_001362277.1:p.Leu167=
NM_001375349.1:c.634T=	NP_001362278.1:p.Leu212=
NM_001375350.1:c.499T=	NP_001362279.1:p.Leu167=
NM_198903.2:c.1039T=	NP_944493.2:p.Leu347=
NM_198904.2:c.919T=	NP_944494.1:p.Leu307=
NM_198904.3:c.919T=	NP_944494.1:p.Leu307=
ENST00000356592.7:c.919T=	ENSP00000349000.3:p.Leu307=
ENST00000356592.8:c.920T=
ENST00000361925.8:c.919T=	ENSP00000354651.4:p.Leu307=
ENST00000361925.9:c.1039T=	ENSP00000354651.5:p.Leu347=
ENST00000414552.6:c.1039T=	ENSP00000410732.2:p.Leu347=
ENST00000522053.1:c.634T=	ENSP00000430182.1:p.Leu212=
ENST00000522053.2:n.810T=
ENST00000522990.5:c.*521T=	ENSP00000430732.1:n.*521T=
ENST00000523372.1:c.1040T=	ENSP00000430124.1:n.1040T=
ENST00000523372.2:c.1002T=
ENST00000638253.1:n.173T=
ENST00000638552.1:c.634T=	ENSP00000491763.1:p.Leu212=
ENST00000638660.1:c.634T=	ENSP00000492869.1:p.Leu212=
ENST00000638772.1:c.919T=	ENSP00000491557.1:p.Leu307=
ENST00000638782.1:n.981T=
ENST00000638877.1:c.796T=
ENST00000639046.1:c.310T=	ENSP00000492659.1:p.Leu104=
ENST00000639111.2:c.919T=	ENSP00000492125.2:p.Leu307=
ENST00000639278.1:c.847T=	ENSP00000491958.1:p.Leu283=
ENST00000639384.1:c.919T=	ENSP00000491240.1:p.Leu307=
ENST00000639424.1:c.*119T=	ENSP00000491245.1:n.*119T=
ENST00000639683.1:c.853T=	ENSP00000492581.1:p.Leu285=
ENST00000639975.1:c.853T=	ENSP00000492096.1:p.Leu285=
ENST00000640500.1:n.217T=
ENST00000640574.1:c.634T=	ENSP00000491582.1:p.Leu212=
ENST00000640739.1:n.3450T=
ENST00000640910.1:c.357T=
ENST00000640985.1:c.832T=	ENSP00000492293.1:p.Leu278=
ENST00000641017.1:c.919T=	ENSP00000493461.1:p.Leu307=