Canonical Allele Identifier: CA2580078952

Gene: PEX2

Linked Data

• ClinVar Variation Id: 2135359
• ClinVar RCV Id: RCV003048592

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983569_76983570del , CM000670.2:g.76983569_76983570del	GRCh38
NC_000008.10:g.77895805_77895806del , CM000670.1:g.77895805_77895806del	GRCh37
NC_000008.9:g.78058360_78058361del	NCBI36
NG_008371.1:g.21720_21721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.610_611del MANE Select	ENSP00000349543.4:p.Leu204AspfsTer28
ENST00000357039.8:c.610_611del	ENSP00000349543.4:p.Leu204AspfsTer28
ENST00000520103.5:c.610_611del	ENSP00000428590.1:p.Leu204AspfsTer28
ENST00000522527.5:c.610_611del	ENSP00000428638.1:p.Leu204AspfsTer28
NM_000318.2:c.610_611del	NP_000309.1:p.Leu204AspfsTer28
NM_001079867.1:c.610_611del	NP_001073336.1:p.Leu204AspfsTer28
NM_001172086.1:c.610_611del	NP_001165557.1:p.Leu204AspfsTer28
NM_001172087.1:c.610_611del	NP_001165558.1:p.Leu204AspfsTer28
NM_000318.3:c.610_611del MANE Select	NP_000309.2:p.Leu204AspfsTer28
NM_001079867.2:c.610_611del	NP_001073336.2:p.Leu204AspfsTer28
NM_001172086.2:c.610_611del	NP_001165557.2:p.Leu204AspfsTer28
NM_001172087.2:c.610_611del	NP_001165558.2:p.Leu204AspfsTer28