Canonical Allele Identifier: CA374351152

Gene: GABBR2

Linked Data

• MyVariant Identifiers: chr9:g.101304295C>G (hg19) ; chr9:g.98542013C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98542013C>G , CM000671.2:g.98542013C>G	GRCh38
NC_000009.11:g.101304295C>G , CM000671.1:g.101304295C>G	GRCh37
NC_000009.10:g.100344116C>G	NCBI36
NG_016426.1:g.172185G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.490G>C MANE Select	ENSP00000259455.2:p.Ala164Pro
ENST00000637410.1:n.268G>C
ENST00000637717.1:c.106G>C	ENSP00000490789.1:p.Ala36Pro
ENST00000638001.1:n.100G>C
ENST00000259455.3:c.490G>C	ENSP00000259455.2:p.Ala164Pro
ENST00000477471.1:n.277G>C
ENST00000634227.1:n.264G>C
NM_005458.7:c.490G>C	NP_005449.5:p.Ala164Pro
XM_017015331.2:c.196G>C	XP_016870820.1:p.Ala66Pro
NM_005458.8:c.490G>C MANE Select	NP_005449.5:p.Ala164Pro