Canonical Allele Identifier: CA374351077

Gene: GABBR2

Linked Data

• dbSNP Id: rs1828312203
• gnomAD v4: 9-98541983-G-A
• COSMIC: COSM1207759
• MyVariant Identifiers: chr9:g.101304265G>A (hg19) ; chr9:g.98541983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541983G>A , CM000671.2:g.98541983G>A	GRCh38
NC_000009.11:g.101304265G>A , CM000671.1:g.101304265G>A	GRCh37
NC_000009.10:g.100344086G>A	NCBI36
NG_016426.1:g.172215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.520C>T MANE Select	ENSP00000259455.2:p.Arg174Trp
ENST00000637410.1:n.298C>T
ENST00000637717.1:c.136C>T	ENSP00000490789.1:p.Arg46Trp
ENST00000259455.3:c.520C>T	ENSP00000259455.2:p.Arg174Trp
ENST00000477471.1:n.307C>T
ENST00000634227.1:n.294C>T
NM_005458.7:c.520C>T	NP_005449.5:p.Arg174Trp
XM_017015331.2:c.226C>T	XP_016870820.1:p.Arg76Trp
NM_005458.8:c.520C>T MANE Select	NP_005449.5:p.Arg174Trp