Canonical Allele Identifier: CA3543455

Gene: GABRB2

Linked Data

• dbSNP Id: rs140371314
• ExAC: 5:160758010 G / C
• gnomAD v2: 5-160758010-G-C
• MyVariant Identifiers: chr5:g.160758010G>C (hg19) ; chr5:g.161331003G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161331003G>C , CM000667.2:g.161331003G>C	GRCh38
NC_000005.9:g.160758010G>C , CM000667.1:g.160758010G>C	GRCh37
NC_000005.8:g.160690588G>C	NCBI36
NG_047050.1:g.222122C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274547.7:c.957C>G	ENSP00000274547.2:p.Ala319=
ENST00000393959.6:c.957C>G MANE Select	ENSP00000377531.1:p.Ala319=
ENST00000674514.1:n.1039C>G
ENST00000675081.1:c.*416C>G	ENSP00000502207.1:n.*416C>G
ENST00000675303.1:c.957C>G	ENSP00000502748.1:p.Ala319=
ENST00000675381.1:c.705C>G	ENSP00000501968.1:p.Ala235=
ENST00000675746.1:c.207C>G	ENSP00000502391.1:p.Ala69=
ENST00000675773.1:c.957C>G	ENSP00000502701.1:p.Ala319=
ENST00000274547.6:c.957C>G	ENSP00000274547.2:p.Ala319=
ENST00000353437.10:c.957C>G	ENSP00000274546.6:p.Ala319=
ENST00000393959.5:c.957C>G	ENSP00000377531.1:p.Ala319=
ENST00000517547.5:c.477C>G	ENSP00000429750.1:p.Ala159=
ENST00000517901.5:c.768C>G	ENSP00000430532.1:p.Ala256=
ENST00000520240.5:c.957C>G	ENSP00000429320.1:p.Ala319=
ENST00000612710.1:c.768C>G	ENSP00000480066.1:p.Ala256=
NM_000813.2:c.957C>G	NP_000804.1:p.Ala319=
NM_021911.2:c.957C>G	NP_068711.1:p.Ala319=
XM_011534501.1:c.207C>G	XP_011532803.1:p.Ala69=
NM_000813.3:c.957C>G	NP_000804.1:p.Ala319=
NM_001371727.1:c.957C>G MANE Select	NP_001358656.1:p.Ala319=
NM_021911.3:c.957C>G	NP_068711.1:p.Ala319=