Canonical Allele Identifier: CA374351082

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304267A>G (hg19) ; chr9:g.98541985A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541985A>G , CM000671.2:g.98541985A>G	GRCh38
NC_000009.11:g.101304267A>G , CM000671.1:g.101304267A>G	GRCh37
NC_000009.10:g.100344088A>G	NCBI36
NG_016426.1:g.172213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.518T>C MANE Select	ENSP00000259455.2:p.Phe173Ser
ENST00000637410.1:n.296T>C
ENST00000637717.1:c.134T>C	ENSP00000490789.1:p.Phe45Ser
ENST00000259455.3:c.518T>C	ENSP00000259455.2:p.Phe173Ser
ENST00000477471.1:n.305T>C
ENST00000634227.1:n.292T>C
NM_005458.7:c.518T>C	NP_005449.5:p.Phe173Ser
XM_017015331.2:c.224T>C	XP_016870820.1:p.Phe75Ser
NM_005458.8:c.518T>C MANE Select	NP_005449.5:p.Phe173Ser