Canonical Allele Identifier: CA1595983828

Gene: GABRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161330920C= , CM000667.2:g.161330920C=	GRCh38
NC_000005.9:g.160757927C= , CM000667.1:g.160757927C=	GRCh37
NC_000005.8:g.160690505C=	NCBI36
NG_047050.1:g.222205G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.1040G=	ENSP00000274547.2:p.Ser347=
ENST00000393959.6:c.1040G= MANE Select	ENSP00000377531.1:p.Ser347=
ENST00000674514.1:n.1122G=
ENST00000675081.1:c.*499G=	ENSP00000502207.1:n.*499G=
ENST00000675303.1:c.1040G=	ENSP00000502748.1:p.Ser347=
ENST00000675381.1:c.788G=	ENSP00000501968.1:p.Ser263=
ENST00000675746.1:c.290G=	ENSP00000502391.1:p.Ser97=
ENST00000675773.1:c.1040G=	ENSP00000502701.1:p.Ser347=
ENST00000274547.6:c.1040G=	ENSP00000274547.2:p.Ser347=
ENST00000353437.10:c.1040G=	ENSP00000274546.6:p.Ser347=
ENST00000393959.5:c.1040G=	ENSP00000377531.1:p.Ser347=
ENST00000517547.5:c.560G=	ENSP00000429750.1:p.Ser187=
ENST00000517901.5:c.851G=	ENSP00000430532.1:p.Ser284=
ENST00000520240.5:c.1040G=	ENSP00000429320.1:p.Ser347=
ENST00000612710.1:c.851G=	ENSP00000480066.1:p.Ser284=
NM_000813.2:c.1040G=	NP_000804.1:p.Ser347=
NM_021911.2:c.1040G=	NP_068711.1:p.Ser347=
XM_011534501.1:c.290G=	XP_011532803.1:p.Ser97=
NM_000813.3:c.1040G=	NP_000804.1:p.Ser347=
NM_001371727.1:c.1040G= MANE Select	NP_001358656.1:p.Ser347=
NM_021911.3:c.1040G=	NP_068711.1:p.Ser347=