Canonical Allele Identifier: CA371557100

Gene: PEX2

Linked Data

• gnomAD v4: 8-76983629-A-T
• MyVariant Identifiers: chr8:g.77895865A>T (hg19) ; chr8:g.76983629A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983629A>T , CM000670.2:g.76983629A>T	GRCh38
NC_000008.10:g.77895865A>T , CM000670.1:g.77895865A>T	GRCh37
NC_000008.9:g.78058420A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.550T>A MANE Select	ENSP00000349543.4:p.Cys184Ser
ENST00000357039.8:c.550T>A	ENSP00000349543.4:p.Cys184Ser
ENST00000520103.5:c.550T>A	ENSP00000428590.1:p.Cys184Ser
ENST00000522527.5:c.550T>A	ENSP00000428638.1:p.Cys184Ser
NM_000318.3:c.550T>A MANE Select	NP_000309.2:p.Cys184Ser
NM_001079867.2:c.550T>A	NP_001073336.2:p.Cys184Ser
NM_001172086.2:c.550T>A	NP_001165557.2:p.Cys184Ser
NM_001172087.2:c.550T>A	NP_001165558.2:p.Cys184Ser