Canonical Allele Identifier: CA4788752

Gene: PEX2

Linked Data

• ClinVar Variation Id: 1442703
• ClinVar RCV Id: RCV001953126
• dbSNP Id: rs777974798
• ExAC: 8:77896194 G / GC
• gnomAD v2: 8-77896194-G-GC
• gnomAD v4: 8-76983958-G-GC
• MyVariant Identifiers: chr8:g.77896194_77896195insC (hg19) ; chr8:g.76983958_76983959insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983959dup , CM000670.2:g.76983959dup	GRCh38
NC_000008.10:g.77896195dup , CM000670.1:g.77896195dup	GRCh37
NC_000008.9:g.78058750dup	NCBI36
NG_008371.1:g.21330dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.220dup MANE Select	ENSP00000349543.4:p.Ala74GlyfsTer11
ENST00000357039.8:c.220dup	ENSP00000349543.4:p.Ala74GlyfsTer11
ENST00000518986.5:c.220dup	ENSP00000429304.1:p.Ala74GlyfsTer11
ENST00000520103.5:c.220dup	ENSP00000428590.1:p.Ala74GlyfsTer11
ENST00000522527.5:c.220dup	ENSP00000428638.1:p.Ala74GlyfsTer11
NM_000318.2:c.220dup	NP_000309.1:p.Ala74GlyfsTer11
NM_001079867.1:c.220dup	NP_001073336.1:p.Ala74GlyfsTer11
NM_001172086.1:c.220dup	NP_001165557.1:p.Ala74GlyfsTer11
NM_001172087.1:c.220dup	NP_001165558.1:p.Ala74GlyfsTer11
NM_000318.3:c.220dup MANE Select	NP_000309.2:p.Ala74GlyfsTer11
NM_001079867.2:c.220dup	NP_001073336.2:p.Ala74GlyfsTer11
NM_001172086.2:c.220dup	NP_001165557.2:p.Ala74GlyfsTer11
NM_001172087.2:c.220dup	NP_001165558.2:p.Ala74GlyfsTer11