Canonical Allele Identifier: CA374351157

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304298G>T (hg19) ; chr9:g.98542016G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542016G>T , CM000671.2:g.98542016G>T	GRCh38
NC_000009.11:g.101304298G>T , CM000671.1:g.101304298G>T	GRCh37
NC_000009.10:g.100344119G>T	NCBI36
NG_016426.1:g.172182C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.487C>A MANE Select	ENSP00000259455.2:p.Leu163Ile
ENST00000637410.1:n.265C>A
ENST00000637717.1:c.103C>A	ENSP00000490789.1:p.Leu35Ile
ENST00000638001.1:n.97C>A
ENST00000259455.3:c.487C>A	ENSP00000259455.2:p.Leu163Ile
ENST00000477471.1:n.274C>A
ENST00000634227.1:n.261C>A
NM_005458.7:c.487C>A	NP_005449.5:p.Leu163Ile
XM_017015331.2:c.193C>A	XP_016870820.1:p.Leu65Ile
NM_005458.8:c.487C>A MANE Select	NP_005449.5:p.Leu163Ile