Canonical Allele Identifier: CA2687718867

Gene: PEX2

Linked Data

• gnomAD v4: 8-76983614-CAAAGCCAACTTCACAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983616_76983631del , CM000670.2:g.76983616_76983631del	GRCh38
NC_000008.10:g.77895852_77895867del , CM000670.1:g.77895852_77895867del	GRCh37
NC_000008.9:g.78058407_78058422del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.549_564del MANE Select	ENSP00000349543.4:p.Ile183MetfsTer4
ENST00000357039.8:c.549_564del	ENSP00000349543.4:p.Ile183MetfsTer4
ENST00000520103.5:c.549_564del	ENSP00000428590.1:p.Ile183MetfsTer4
ENST00000522527.5:c.549_564del	ENSP00000428638.1:p.Ile183MetfsTer4
NM_000318.3:c.549_564del MANE Select	NP_000309.2:p.Ile183MetfsTer4
NM_001079867.2:c.549_564del	NP_001073336.2:p.Ile183MetfsTer4
NM_001172086.2:c.549_564del	NP_001165557.2:p.Ile183MetfsTer4
NM_001172087.2:c.549_564del	NP_001165558.2:p.Ile183MetfsTer4