Canonical Allele Identifier: CA374351098

Gene: GABBR2

Linked Data

• ClinVar Variation Id: 2820993
• ClinVar RCV Id: RCV003755514
• MyVariant Identifiers: chr9:g.101304273T>A (hg19) ; chr9:g.98541991T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541991T>A , CM000671.2:g.98541991T>A	GRCh38
NC_000009.11:g.101304273T>A , CM000671.1:g.101304273T>A	GRCh37
NC_000009.10:g.100344094T>A	NCBI36
NG_016426.1:g.172207A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.512A>T MANE Select	ENSP00000259455.2:p.Tyr171Phe
ENST00000637410.1:n.290A>T
ENST00000637717.1:c.128A>T	ENSP00000490789.1:p.Tyr43Phe
ENST00000259455.3:c.512A>T	ENSP00000259455.2:p.Tyr171Phe
ENST00000477471.1:n.299A>T
ENST00000634227.1:n.286A>T
NM_005458.7:c.512A>T	NP_005449.5:p.Tyr171Phe
XM_017015331.2:c.218A>T	XP_016870820.1:p.Tyr73Phe
NM_005458.8:c.512A>T MANE Select	NP_005449.5:p.Tyr171Phe