Canonical Allele Identifier: CA1795351060

Gene: PEX2

Linked Data

• ClinVar Variation Id: 2677668
• ClinVar RCV Id: RCV003476802
• dbSNP Id: rs1806900857
• gnomAD v4: 8-76983502-G-GGAATACACCATGAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983503_76983518dup , CM000670.2:g.76983503_76983518dup	GRCh38
NC_000008.10:g.77895739_77895754dup , CM000670.1:g.77895739_77895754dup	GRCh37
NC_000008.9:g.78058294_78058309dup	NCBI36
NG_008371.1:g.21771_21786dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.661_676dup MANE Select	ENSP00000349543.4:p.Pro226LeufsTer12
ENST00000357039.8:c.661_676dup	ENSP00000349543.4:p.Pro226LeufsTer12
ENST00000520103.5:c.661_676dup	ENSP00000428590.1:p.Pro226LeufsTer12
ENST00000522527.5:c.661_676dup	ENSP00000428638.1:p.Pro226LeufsTer12
NM_000318.2:c.661_676dup	NP_000309.1:p.Pro226LeufsTer12
NM_001079867.1:c.661_676dup	NP_001073336.1:p.Pro226LeufsTer12
NM_001172086.1:c.661_676dup	NP_001165557.1:p.Pro226LeufsTer12
NM_001172087.1:c.661_676dup	NP_001165558.1:p.Pro226LeufsTer12
NM_000318.3:c.661_676dup MANE Select	NP_000309.2:p.Pro226LeufsTer12
NM_001079867.2:c.661_676dup	NP_001073336.2:p.Pro226LeufsTer12
NM_001172086.2:c.661_676dup	NP_001165557.2:p.Pro226LeufsTer12
NM_001172087.2:c.661_676dup	NP_001165558.2:p.Pro226LeufsTer12