Canonical Allele Identifier: CA1596382096

Gene: GABRG2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153213T= , CM000667.2:g.162153213T=	GRCh38
NC_000005.9:g.161580219T= , CM000667.1:g.161580219T=	GRCh37
NC_000005.8:g.161512797T=	NCBI36
NG_009290.1:g.90572T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1274T=
ENST00000361925.9:c.1369T=	ENSP00000354651.5:p.Phe457=
ENST00000523372.2:c.1332T=
ENST00000638253.1:n.527T=
ENST00000638552.1:c.964T=	ENSP00000491763.1:p.Phe322=
ENST00000638660.1:c.988T=	ENSP00000492869.1:p.Phe330=
ENST00000638772.1:c.*3870T=	ENSP00000491557.1:n.*3870T=
ENST00000638877.1:c.1150T=
ENST00000639046.1:c.640T=	ENSP00000492659.1:p.Phe214=
ENST00000639111.2:c.1249T=	ENSP00000492125.2:p.Phe417=
ENST00000639213.2:c.1273T= MANE Select	ENSP00000491909.2:p.Phe425=
ENST00000639278.1:c.1936T=	ENSP00000491958.1:n.1936T=
ENST00000639384.1:c.*1454T=	ENSP00000491240.1:n.*1454T=
ENST00000639424.1:c.*473T=	ENSP00000491245.1:n.*473T=
ENST00000639683.1:c.1207T=	ENSP00000492581.1:p.Phe403=
ENST00000639975.1:c.1183T=	ENSP00000492096.1:p.Phe395=
ENST00000640500.1:n.547T=
ENST00000640739.1:n.6220T=
ENST00000640910.1:c.711T=
ENST00000640985.1:c.1186T=	ENSP00000492293.1:p.Phe396=
ENST00000641017.1:c.1342T=	ENSP00000493461.1:p.Phe448=
ENST00000356592.7:c.1273T=	ENSP00000349000.3:p.Phe425=
ENST00000361925.8:c.1249T=	ENSP00000354651.4:p.Phe417=
ENST00000414552.6:c.1393T=	ENSP00000410732.2:p.Phe465=
ENST00000522990.5:c.*851T=	ENSP00000430732.1:n.*851T=
ENST00000523372.1:c.1370T=	ENSP00000430124.1:n.1370T=
NM_000816.3:c.1249T=	NP_000807.2:p.Phe417=
NM_198903.2:c.1393T=	NP_944493.2:p.Phe465=
NM_198904.2:c.1273T=	NP_944494.1:p.Phe425=
NM_001375339.1:c.1264T=	NP_001362268.1:p.Phe422=
NM_001375340.1:c.*107T=	NP_001362269.1:n.*107T=
NM_001375341.1:c.1270T=	NP_001362270.1:p.Phe424=
NM_001375342.1:c.1246T=	NP_001362271.1:p.Phe416=
NM_001375343.1:c.1369T=	NP_001362272.1:p.Phe457=
NM_001375344.1:c.1312T=	NP_001362273.1:p.Phe438=
NM_001375345.1:c.1183T=	NP_001362274.1:p.Phe395=
NM_001375346.1:c.1207T=	NP_001362275.1:p.Phe403=
NM_001375347.1:c.1186T=	NP_001362276.1:p.Phe396=
NM_001375348.1:c.829T=	NP_001362277.1:p.Phe277=
NM_001375349.1:c.964T=	NP_001362278.1:p.Phe322=
NM_001375350.1:c.853T=	NP_001362279.1:p.Phe285=
NM_198904.3:c.1273T=	NP_944494.1:p.Phe425=
NM_198904.4:c.1273T= MANE Select	NP_944494.1:p.Phe425=