Canonical Allele Identifier: CA374351067
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541977C>A , CM000671.2:g.98541977C>A GRCh38
NC_000009.11:g.101304259C>A , CM000671.1:g.101304259C>A GRCh37
NC_000009.10:g.100344080C>A NCBI36
NG_016426.1:g.172221G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.526G>T MANE Select ENSP00000259455.2:p.Val176Phe
ENST00000637410.1:n.304G>T
ENST00000637717.1:c.142G>T ENSP00000490789.1:p.Val48Phe
ENST00000259455.3:c.526G>T ENSP00000259455.2:p.Val176Phe
ENST00000477471.1:n.313G>T
ENST00000634227.1:n.300G>T
NM_005458.7:c.526G>T NP_005449.5:p.Val176Phe
XM_017015331.2:c.232G>T XP_016870820.1:p.Val78Phe
NM_005458.8:c.526G>T MANE Select NP_005449.5:p.Val176Phe