Canonical Allele Identifier: CA4788673
Gene: PEX2 HGNC NCBI

Linked Data

dbSNP Id: rs751185739

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983531C>G , CM000670.2:g.76983531C>G GRCh38
NC_000008.10:g.77895767C>G , CM000670.1:g.77895767C>G GRCh37
NC_000008.9:g.78058322C>G NCBI36
NG_008371.1:g.21758G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357039.9:c.648G>C MANE Select ENSP00000349543.4:p.Leu216Phe
ENST00000357039.8:c.648G>C ENSP00000349543.4:p.Leu216Phe
ENST00000520103.5:c.648G>C ENSP00000428590.1:p.Leu216Phe
ENST00000522527.5:c.648G>C ENSP00000428638.1:p.Leu216Phe
NM_000318.2:c.648G>C NP_000309.1:p.Leu216Phe
NM_001079867.1:c.648G>C NP_001073336.1:p.Leu216Phe
NM_001172086.1:c.648G>C NP_001165557.1:p.Leu216Phe
NM_001172087.1:c.648G>C NP_001165558.1:p.Leu216Phe
NM_000318.3:c.648G>C MANE Select NP_000309.2:p.Leu216Phe
NM_001079867.2:c.648G>C NP_001073336.2:p.Leu216Phe
NM_001172086.2:c.648G>C NP_001165557.2:p.Leu216Phe
NM_001172087.2:c.648G>C NP_001165558.2:p.Leu216Phe