Canonical Allele Identifier: CA2573143381

Gene: PEX2

Linked Data

• ClinVar Variation Id: 1455464
• ClinVar RCV Id: RCV001970033
• dbSNP Id: rs2132044079
• gnomAD v4: 8-76983782-C-CAAATGATGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983791_76983800dup , CM000670.2:g.76983791_76983800dup	GRCh38
NC_000008.10:g.77896027_77896036dup , CM000670.1:g.77896027_77896036dup	GRCh37
NC_000008.9:g.78058582_78058591dup	NCBI36
NG_008371.1:g.21497_21506dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.387_396dup MANE Select	ENSP00000349543.4:p.Gly133SerfsTer24
ENST00000357039.8:c.387_396dup	ENSP00000349543.4:p.Gly133SerfsTer24
ENST00000518986.5:c.387_396dup	ENSP00000429304.1:p.Gly133SerfsTer24
ENST00000520103.5:c.387_396dup	ENSP00000428590.1:p.Gly133SerfsTer24
ENST00000522527.5:c.387_396dup	ENSP00000428638.1:p.Gly133SerfsTer24
NM_000318.2:c.387_396dup	NP_000309.1:p.Gly133SerfsTer24
NM_001079867.1:c.387_396dup	NP_001073336.1:p.Gly133SerfsTer24
NM_001172086.1:c.387_396dup	NP_001165557.1:p.Gly133SerfsTer24
NM_001172087.1:c.387_396dup	NP_001165558.1:p.Gly133SerfsTer24
NM_000318.3:c.387_396dup MANE Select	NP_000309.2:p.Gly133SerfsTer24
NM_001079867.2:c.387_396dup	NP_001073336.2:p.Gly133SerfsTer24
NM_001172086.2:c.387_396dup	NP_001165557.2:p.Gly133SerfsTer24
NM_001172087.2:c.387_396dup	NP_001165558.2:p.Gly133SerfsTer24