Canonical Allele Identifier: CA374350937

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304202A>T (hg19) ; chr9:g.98541920A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541920A>T , CM000671.2:g.98541920A>T	GRCh38
NC_000009.11:g.101304202A>T , CM000671.1:g.101304202A>T	GRCh37
NC_000009.10:g.100344023A>T	NCBI36
NG_016426.1:g.172278T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.583T>A MANE Select	ENSP00000259455.2:p.Trp195Arg
ENST00000637410.1:n.361T>A
ENST00000637717.1:c.199T>A	ENSP00000490789.1:p.Trp67Arg
ENST00000259455.3:c.583T>A	ENSP00000259455.2:p.Trp195Arg
ENST00000477471.1:n.370T>A
ENST00000634227.1:n.357T>A
NM_005458.7:c.583T>A	NP_005449.5:p.Trp195Arg
XM_017015331.2:c.289T>A	XP_016870820.1:p.Trp97Arg
NM_005458.8:c.583T>A MANE Select	NP_005449.5:p.Trp195Arg