Canonical Allele Identifier: CA1595966930

Gene: GABRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161294312G= , CM000667.2:g.161294312G=	GRCh38
NC_000005.9:g.160721319G= , CM000667.1:g.160721319G=	GRCh37
NC_000005.8:g.160653897G=	NCBI36
NG_047050.1:g.258813C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.1308C=	ENSP00000274547.2:p.Ala436=
ENST00000393959.6:c.1308C= MANE Select	ENSP00000377531.1:p.Ala436=
ENST00000675081.1:c.*653C=	ENSP00000502207.1:n.*653C=
ENST00000675303.1:c.1194C=	ENSP00000502748.1:p.Ala398=
ENST00000675381.1:c.942C=	ENSP00000501968.1:p.Ala314=
ENST00000675746.1:c.444C=	ENSP00000502391.1:p.Ala148=
ENST00000675773.1:c.1194C=	ENSP00000502701.1:p.Ala398=
ENST00000274547.6:c.1308C=	ENSP00000274547.2:p.Ala436=
ENST00000353437.10:c.1194C=	ENSP00000274546.6:p.Ala398=
ENST00000393959.5:c.1308C=	ENSP00000377531.1:p.Ala436=
ENST00000517547.5:c.714C=	ENSP00000429750.1:p.Ala238=
ENST00000517901.5:c.1005C=	ENSP00000430532.1:p.Ala335=
ENST00000520240.5:c.1194C=	ENSP00000429320.1:p.Ala398=
NM_000813.2:c.1194C=	NP_000804.1:p.Ala398=
NM_021911.2:c.1308C=	NP_068711.1:p.Ala436=
XM_011534501.1:c.558C=	XP_011532803.1:p.Ala186=
NM_000813.3:c.1194C=	NP_000804.1:p.Ala398=
NM_001371727.1:c.1308C= MANE Select	NP_001358656.1:p.Ala436=
NM_021911.3:c.1308C=	NP_068711.1:p.Ala436=