Canonical Allele Identifier: CA447691321

Gene: GABRB2

Linked Data

• MyVariant Identifiers: chr5:g.160757971C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161330964C>A , CM000667.2:g.161330964C>A	GRCh38
NC_000005.9:g.160757971C>A , CM000667.1:g.160757971C>A	GRCh37
NC_000005.8:g.160690549C>A	NCBI36
NG_047050.1:g.222161G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274547.7:c.996G>T	ENSP00000274547.2:p.Gly332=
ENST00000393959.6:c.996G>T MANE Select	ENSP00000377531.1:p.Gly332=
ENST00000674514.1:n.1078G>T
ENST00000675081.1:c.*455G>T	ENSP00000502207.1:n.*455G>T
ENST00000675303.1:c.996G>T	ENSP00000502748.1:p.Gly332=
ENST00000675381.1:c.744G>T	ENSP00000501968.1:p.Gly248=
ENST00000675746.1:c.246G>T	ENSP00000502391.1:p.Gly82=
ENST00000675773.1:c.996G>T	ENSP00000502701.1:p.Gly332=
ENST00000274547.6:c.996G>T	ENSP00000274547.2:p.Gly332=
ENST00000353437.10:c.996G>T	ENSP00000274546.6:p.Gly332=
ENST00000393959.5:c.996G>T	ENSP00000377531.1:p.Gly332=
ENST00000517547.5:c.516G>T	ENSP00000429750.1:p.Gly172=
ENST00000517901.5:c.807G>T	ENSP00000430532.1:p.Gly269=
ENST00000520240.5:c.996G>T	ENSP00000429320.1:p.Gly332=
ENST00000612710.1:c.807G>T	ENSP00000480066.1:p.Gly269=
NM_000813.2:c.996G>T	NP_000804.1:p.Gly332=
NM_021911.2:c.996G>T	NP_068711.1:p.Gly332=
XM_011534501.1:c.246G>T	XP_011532803.1:p.Gly82=
NM_000813.3:c.996G>T	NP_000804.1:p.Gly332=
NM_001371727.1:c.996G>T MANE Select	NP_001358656.1:p.Gly332=
NM_021911.3:c.996G>T	NP_068711.1:p.Gly332=