Canonical Allele Identifier: CA1595985523

Gene: GABRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161334847A= , CM000667.2:g.161334847A=	GRCh38
NC_000005.9:g.160761854A= , CM000667.1:g.160761854A=	GRCh37
NC_000005.8:g.160694432A=	NCBI36
NG_047050.1:g.218278T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001371727.1:c.737T= MANE Select	NP_001358656.1:p.Ile246=
ENST00000393959.6:c.737T= MANE Select	ENSP00000377531.1:p.Ile246=
NM_000813.2:c.737T=	NP_000804.1:p.Ile246=
NM_000813.3:c.737T=	NP_000804.1:p.Ile246=
NM_021911.2:c.737T=	NP_068711.1:p.Ile246=
NM_021911.3:c.737T=	NP_068711.1:p.Ile246=
ENST00000274547.6:c.737T=	ENSP00000274547.2:p.Ile246=
ENST00000274547.7:c.737T=	ENSP00000274547.2:p.Ile246=
ENST00000353437.10:c.737T=	ENSP00000274546.6:p.Ile246=
ENST00000393959.5:c.737T=	ENSP00000377531.1:p.Ile246=
ENST00000517547.5:c.257T=	ENSP00000429750.1:p.Ile86=
ENST00000517901.5:c.548T=	ENSP00000430532.1:p.Ile183=
ENST00000520240.5:c.737T=	ENSP00000429320.1:p.Ile246=
ENST00000612710.1:c.548T=	ENSP00000480066.1:p.Ile183=
ENST00000674514.1:n.819T=
ENST00000675081.1:c.*196T=	ENSP00000502207.1:n.*196T=
ENST00000675303.1:c.737T=	ENSP00000502748.1:p.Ile246=
ENST00000675381.1:c.485T=	ENSP00000501968.1:p.Ile162=
ENST00000675746.1:c.-14T=	ENSP00000502391.1:n.-14T=
ENST00000675773.1:c.737T=	ENSP00000502701.1:p.Ile246=
XM_011534501.1:c.-14T=	XP_011532803.1:n.-14T=