Canonical Allele Identifier: CA374351044
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541967T>A , CM000671.2:g.98541967T>A GRCh38
NC_000009.11:g.101304249T>A , CM000671.1:g.101304249T>A GRCh37
NC_000009.10:g.100344070T>A NCBI36
NG_016426.1:g.172231A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.536A>T MANE Select ENSP00000259455.2:p.Asp179Val
ENST00000637410.1:n.314A>T
ENST00000637717.1:c.152A>T ENSP00000490789.1:p.Asp51Val
ENST00000259455.3:c.536A>T ENSP00000259455.2:p.Asp179Val
ENST00000477471.1:n.323A>T
ENST00000634227.1:n.310A>T
NM_005458.7:c.536A>T NP_005449.5:p.Asp179Val
XM_017015331.2:c.242A>T XP_016870820.1:p.Asp81Val
NM_005458.8:c.536A>T MANE Select NP_005449.5:p.Asp179Val