Canonical Allele Identifier: CA374351084
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541986A>C , CM000671.2:g.98541986A>C GRCh38
NC_000009.11:g.101304268A>C , CM000671.1:g.101304268A>C GRCh37
NC_000009.10:g.100344089A>C NCBI36
NG_016426.1:g.172212T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.517T>G MANE Select ENSP00000259455.2:p.Phe173Val
ENST00000637410.1:n.295T>G
ENST00000637717.1:c.133T>G ENSP00000490789.1:p.Phe45Val
ENST00000259455.3:c.517T>G ENSP00000259455.2:p.Phe173Val
ENST00000477471.1:n.304T>G
ENST00000634227.1:n.291T>G
NM_005458.7:c.517T>G NP_005449.5:p.Phe173Val
XM_017015331.2:c.223T>G XP_016870820.1:p.Phe75Val
NM_005458.8:c.517T>G MANE Select NP_005449.5:p.Phe173Val