Canonical Allele Identifier: CA374351022
Gene: GABBR2 HGNC NCBI

Linked Data

gnomAD v4: 9-98541958-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541958A>G , CM000671.2:g.98541958A>G GRCh38
NC_000009.11:g.101304240A>G , CM000671.1:g.101304240A>G GRCh37
NC_000009.10:g.100344061A>G NCBI36
NG_016426.1:g.172240T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.545T>C MANE Select ENSP00000259455.2:p.Val182Ala
ENST00000637410.1:n.323T>C
ENST00000637717.1:c.161T>C ENSP00000490789.1:p.Val54Ala
ENST00000259455.3:c.545T>C ENSP00000259455.2:p.Val182Ala
ENST00000477471.1:n.332T>C
ENST00000634227.1:n.319T>C
NM_005458.7:c.545T>C NP_005449.5:p.Val182Ala
XM_017015331.2:c.251T>C XP_016870820.1:p.Val84Ala
NM_005458.8:c.545T>C MANE Select NP_005449.5:p.Val182Ala