Canonical Allele Identifier: CA1115556724

Gene: PEX2

Linked Data

• dbSNP Id: rs1806895159
• gnomAD v3: 8-76983388-CAG-C
• gnomAD v4: 8-76983388-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983390_76983391del , CM000670.2:g.76983390_76983391del	GRCh38
NC_000008.10:g.77895626_77895627del , CM000670.1:g.77895626_77895627del	GRCh37
NC_000008.9:g.78058181_78058182del	NCBI36
NG_008371.1:g.21899_21900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.789_790del MANE Select	ENSP00000349543.4:p.Phe263LeufsTer6
ENST00000357039.8:c.789_790del	ENSP00000349543.4:p.Phe263LeufsTer6
ENST00000520103.5:c.789_790del	ENSP00000428590.1:p.Phe263LeufsTer6
ENST00000522527.5:c.789_790del	ENSP00000428638.1:p.Phe263LeufsTer6
NM_000318.2:c.789_790del	NP_000309.1:p.Phe263LeufsTer6
NM_001079867.1:c.789_790del	NP_001073336.1:p.Phe263LeufsTer6
NM_001172086.1:c.789_790del	NP_001165557.1:p.Phe263LeufsTer6
NM_001172087.1:c.789_790del	NP_001165558.1:p.Phe263LeufsTer6
NM_000318.3:c.789_790del MANE Select	NP_000309.2:p.Phe263LeufsTer6
NM_001079867.2:c.789_790del	NP_001073336.2:p.Phe263LeufsTer6
NM_001172086.2:c.789_790del	NP_001165557.2:p.Phe263LeufsTer6
NM_001172087.2:c.789_790del	NP_001165558.2:p.Phe263LeufsTer6