Canonical Allele Identifier: CA5152965

Gene: GABBR2

Linked Data

• dbSNP Id: rs150681816
• ExAC: 9:101304308 G / C
• gnomAD v4: 9-98542026-G-C
• MyVariant Identifiers: chr9:g.101304308G>C (hg19) ; chr9:g.98542026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542026G>C , CM000671.2:g.98542026G>C	GRCh38
NC_000009.11:g.101304308G>C , CM000671.1:g.101304308G>C	GRCh37
NC_000009.10:g.100344129G>C	NCBI36
NG_016426.1:g.172172C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.477C>G MANE Select	ENSP00000259455.2:p.Thr159=
ENST00000637410.1:n.255C>G
ENST00000637717.1:c.93C>G	ENSP00000490789.1:p.Thr31=
ENST00000638001.1:n.87C>G
ENST00000259455.3:c.477C>G	ENSP00000259455.2:p.Thr159=
ENST00000477471.1:n.264C>G
ENST00000634227.1:n.251C>G
NM_005458.7:c.477C>G	NP_005449.5:p.Thr159=
XM_017015331.2:c.183C>G	XP_016870820.1:p.Thr61=
NM_005458.8:c.477C>G MANE Select	NP_005449.5:p.Thr159=