Canonical Allele Identifier: CA374350848

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304162A>T (hg19) ; chr9:g.98541880A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541880A>T , CM000671.2:g.98541880A>T	GRCh38
NC_000009.11:g.101304162A>T , CM000671.1:g.101304162A>T	GRCh37
NC_000009.10:g.100343983A>T	NCBI36
NG_016426.1:g.172318T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.623T>A MANE Select	ENSP00000259455.2:p.Phe208Tyr
ENST00000637410.1:n.401T>A
ENST00000259455.3:c.623T>A	ENSP00000259455.2:p.Phe208Tyr
ENST00000477471.1:n.410T>A
ENST00000634227.1:n.397T>A
NM_005458.7:c.623T>A	NP_005449.5:p.Phe208Tyr
XM_017015331.2:c.329T>A	XP_016870820.1:p.Phe110Tyr
NM_005458.8:c.623T>A MANE Select	NP_005449.5:p.Phe208Tyr