Canonical Allele Identifier: CA374351104

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304276G>T (hg19) ; chr9:g.98541994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541994G>T , CM000671.2:g.98541994G>T	GRCh38
NC_000009.11:g.101304276G>T , CM000671.1:g.101304276G>T	GRCh37
NC_000009.10:g.100344097G>T	NCBI36
NG_016426.1:g.172204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.509C>A MANE Select	ENSP00000259455.2:p.Pro170His
ENST00000637410.1:n.287C>A
ENST00000637717.1:c.125C>A	ENSP00000490789.1:p.Pro42His
ENST00000259455.3:c.509C>A	ENSP00000259455.2:p.Pro170His
ENST00000477471.1:n.296C>A
ENST00000634227.1:n.283C>A
NM_005458.7:c.509C>A	NP_005449.5:p.Pro170His
XM_017015331.2:c.215C>A	XP_016870820.1:p.Pro72His
NM_005458.8:c.509C>A MANE Select	NP_005449.5:p.Pro170His