Canonical Allele Identifier: CA374350904
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541907C>A , CM000671.2:g.98541907C>A GRCh38
NC_000009.11:g.101304189C>A , CM000671.1:g.101304189C>A GRCh37
NC_000009.10:g.100344010C>A NCBI36
NG_016426.1:g.172291G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.596G>T MANE Select ENSP00000259455.2:p.Gly199Val
ENST00000637410.1:n.374G>T
ENST00000637717.1:c.212G>T ENSP00000490789.1:p.Gly71Val
ENST00000259455.3:c.596G>T ENSP00000259455.2:p.Gly199Val
ENST00000477471.1:n.383G>T
ENST00000634227.1:n.370G>T
NM_005458.7:c.596G>T NP_005449.5:p.Gly199Val
XM_017015331.2:c.302G>T XP_016870820.1:p.Gly101Val
NM_005458.8:c.596G>T MANE Select NP_005449.5:p.Gly199Val