Canonical Allele Identifier: CA374350942
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541922T>G , CM000671.2:g.98541922T>G GRCh38
NC_000009.11:g.101304204T>G , CM000671.1:g.101304204T>G GRCh37
NC_000009.10:g.100344025T>G NCBI36
NG_016426.1:g.172276A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.581A>C MANE Select ENSP00000259455.2:p.Gln194Pro
ENST00000637410.1:n.359A>C
ENST00000637717.1:c.197A>C ENSP00000490789.1:p.Gln66Pro
ENST00000259455.3:c.581A>C ENSP00000259455.2:p.Gln194Pro
ENST00000477471.1:n.368A>C
ENST00000634227.1:n.355A>C
NM_005458.7:c.581A>C NP_005449.5:p.Gln194Pro
XM_017015331.2:c.287A>C XP_016870820.1:p.Gln96Pro
NM_005458.8:c.581A>C MANE Select NP_005449.5:p.Gln194Pro