Canonical Allele Identifier: CA180286
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 167455
dbSNP Id: rs10087163

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983629A>G , CM000670.2:g.76983629A>G GRCh38
NC_000008.10:g.77895865A>G , CM000670.1:g.77895865A>G GRCh37
NC_000008.9:g.78058420A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000357039.9:c.550T>C MANE Select ENSP00000349543.4:p.Cys184Arg
ENST00000357039.8:c.550T>C ENSP00000349543.4:p.Cys184Arg
ENST00000520103.5:c.550T>C ENSP00000428590.1:p.Cys184Arg
ENST00000522527.5:c.550T>C ENSP00000428638.1:p.Cys184Arg
NM_000318.3:c.550T>C MANE Select NP_000309.2:p.Cys184Arg
NM_001079867.2:c.550T>C NP_001073336.2:p.Cys184Arg
NM_001172086.2:c.550T>C NP_001165557.2:p.Cys184Arg
NM_001172087.2:c.550T>C NP_001165558.2:p.Cys184Arg