Canonical Allele Identifier: CA374350893
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541899T>G , CM000671.2:g.98541899T>G GRCh38
NC_000009.11:g.101304181T>G , CM000671.1:g.101304181T>G GRCh37
NC_000009.10:g.100344002T>G NCBI36
NG_016426.1:g.172299A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.604A>C MANE Select ENSP00000259455.2:p.Thr202Pro
ENST00000637410.1:n.382A>C
ENST00000637717.1:c.220A>C ENSP00000490789.1:p.Thr74Pro
ENST00000259455.3:c.604A>C ENSP00000259455.2:p.Thr202Pro
ENST00000477471.1:n.391A>C
ENST00000634227.1:n.378A>C
NM_005458.7:c.604A>C NP_005449.5:p.Thr202Pro
XM_017015331.2:c.310A>C XP_016870820.1:p.Thr104Pro
NM_005458.8:c.604A>C MANE Select NP_005449.5:p.Thr202Pro