Canonical Allele Identifier: CA2573143377

Gene: PEX2

Linked Data

• ClinVar Variation Id: 1349831
• ClinVar RCV Id: RCV002051165
• dbSNP Id: rs2132043720

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983628_76983629delinsAG , CM000670.2:g.76983628_76983629delinsAG	GRCh38
NC_000008.10:g.77895864_77895865delinsAG , CM000670.1:g.77895864_77895865delinsAG	GRCh37
NC_000008.9:g.78058419_78058420delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.550_551delinsCT MANE Select	ENSP00000349543.4:p.Cys184Leu
ENST00000357039.8:c.550_551delinsCT	ENSP00000349543.4:p.Cys184Leu
ENST00000520103.5:c.550_551delinsCT	ENSP00000428590.1:p.Cys184Leu
ENST00000522527.5:c.550_551delinsCT	ENSP00000428638.1:p.Cys184Leu
NM_000318.3:c.550_551delinsCT MANE Select	NP_000309.2:p.Cys184Leu
NM_001079867.2:c.550_551delinsCT	NP_001073336.2:p.Cys184Leu
NM_001172086.2:c.550_551delinsCT	NP_001165557.2:p.Cys184Leu
NM_001172087.2:c.550_551delinsCT	NP_001165558.2:p.Cys184Leu