Canonical Allele Identifier: CA2573143378
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1459961
ClinVar RCV Id: RCV001982944
dbSNP Id: rs2132043724
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983628_76983629insG , CM000670.2:g.76983628_76983629insG GRCh38
NC_000008.10:g.77895864_77895865insG , CM000670.1:g.77895864_77895865insG GRCh37
NC_000008.9:g.78058419_78058420insG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.550_551insC MANE Select ENSP00000349543.4:p.Cys184SerfsTer2
ENST00000357039.8:c.550_551insC ENSP00000349543.4:p.Cys184SerfsTer2
ENST00000520103.5:c.550_551insC ENSP00000428590.1:p.Cys184SerfsTer2
ENST00000522527.5:c.550_551insC ENSP00000428638.1:p.Cys184SerfsTer2
NM_000318.3:c.550_551insC MANE Select NP_000309.2:p.Cys184SerfsTer2
NM_001079867.2:c.550_551insC NP_001073336.2:p.Cys184SerfsTer2
NM_001172086.2:c.550_551insC NP_001165557.2:p.Cys184SerfsTer2
NM_001172087.2:c.550_551insC NP_001165558.2:p.Cys184SerfsTer2
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