Canonical Allele Identifier: CA374350882

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304177T>A (hg19) ; chr9:g.98541895T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541895T>A , CM000671.2:g.98541895T>A	GRCh38
NC_000009.11:g.101304177T>A , CM000671.1:g.101304177T>A	GRCh37
NC_000009.10:g.100343998T>A	NCBI36
NG_016426.1:g.172303A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.608A>T MANE Select	ENSP00000259455.2:p.Gln203Leu
ENST00000637410.1:n.386A>T
ENST00000637717.1:c.224A>T	ENSP00000490789.1:p.Gln75Leu
ENST00000259455.3:c.608A>T	ENSP00000259455.2:p.Gln203Leu
ENST00000477471.1:n.395A>T
ENST00000634227.1:n.382A>T
NM_005458.7:c.608A>T	NP_005449.5:p.Gln203Leu
XM_017015331.2:c.314A>T	XP_016870820.1:p.Gln105Leu
NM_005458.8:c.608A>T MANE Select	NP_005449.5:p.Gln203Leu