Canonical Allele Identifier: CA374351076

Gene: GABBR2

Linked Data

• gnomAD v4: 9-98541982-C-T
• MyVariant Identifiers: chr9:g.101304264C>T (hg19) ; chr9:g.98541982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541982C>T , CM000671.2:g.98541982C>T	GRCh38
NC_000009.11:g.101304264C>T , CM000671.1:g.101304264C>T	GRCh37
NC_000009.10:g.100344085C>T	NCBI36
NG_016426.1:g.172216G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.521G>A MANE Select	ENSP00000259455.2:p.Arg174Gln
ENST00000637410.1:n.299G>A
ENST00000637717.1:c.137G>A	ENSP00000490789.1:p.Arg46Gln
ENST00000259455.3:c.521G>A	ENSP00000259455.2:p.Arg174Gln
ENST00000477471.1:n.308G>A
ENST00000634227.1:n.295G>A
NM_005458.7:c.521G>A	NP_005449.5:p.Arg174Gln
XM_017015331.2:c.227G>A	XP_016870820.1:p.Arg76Gln
NM_005458.8:c.521G>A MANE Select	NP_005449.5:p.Arg174Gln