Canonical Allele Identifier: CA180286
Gene: PEX2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 167455
ClinVar RCV Id: RCV000153682
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
NM_000318.3:c.550T>C VV MANE Preferred NP_000309.2: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