Canonical Allele Identifier: CA466527019

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304265G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541983G>T , CM000671.2:g.98541983G>T	GRCh38
NC_000009.11:g.101304265G>T , CM000671.1:g.101304265G>T	GRCh37
NC_000009.10:g.100344086G>T	NCBI36
NG_016426.1:g.172215C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.520C>A MANE Select	ENSP00000259455.2:p.Arg174=
ENST00000637410.1:n.298C>A
ENST00000637717.1:c.136C>A	ENSP00000490789.1:p.Arg46=
ENST00000259455.3:c.520C>A	ENSP00000259455.2:p.Arg174=
ENST00000477471.1:n.307C>A
ENST00000634227.1:n.294C>A
NM_005458.7:c.520C>A	NP_005449.5:p.Arg174=
XM_017015331.2:c.226C>A	XP_016870820.1:p.Arg76=
NM_005458.8:c.520C>A MANE Select	NP_005449.5:p.Arg174=