Canonical Allele Identifier: CA371556817
Gene: PEX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983500G>T , CM000670.2:g.76983500G>T GRCh38
NC_000008.10:g.77895736G>T , CM000670.1:g.77895736G>T GRCh37
NC_000008.9:g.78058291G>T NCBI36
NG_008371.1:g.21789C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.679C>A MANE Select ENSP00000349543.4:p.Leu227Ile
ENST00000357039.8:c.679C>A ENSP00000349543.4:p.Leu227Ile
ENST00000520103.5:c.679C>A ENSP00000428590.1:p.Leu227Ile
ENST00000522527.5:c.679C>A ENSP00000428638.1:p.Leu227Ile
NM_000318.2:c.679C>A NP_000309.1:p.Leu227Ile
NM_001079867.1:c.679C>A NP_001073336.1:p.Leu227Ile
NM_001172086.1:c.679C>A NP_001165557.1:p.Leu227Ile
NM_001172087.1:c.679C>A NP_001165558.1:p.Leu227Ile
NM_000318.3:c.679C>A MANE Select NP_000309.2:p.Leu227Ile
NM_001079867.2:c.679C>A NP_001073336.2:p.Leu227Ile
NM_001172086.2:c.679C>A NP_001165557.2:p.Leu227Ile
NM_001172087.2:c.679C>A NP_001165558.2:p.Leu227Ile