Canonical Allele Identifier: CA4788703
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1025275
dbSNP Id: rs148972539
gnomAD v2: 8-77895949-T-C
gnomAD v3: 8-76983713-T-C
gnomAD v4: 8-76983713-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983713T>C , CM000670.2:g.76983713T>C GRCh38
NC_000008.10:g.77895949T>C , CM000670.1:g.77895949T>C GRCh37
NC_000008.9:g.78058504T>C NCBI36
NG_008371.1:g.21576A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.466A>G MANE Select ENSP00000349543.4:p.Ile156Val
ENST00000357039.8:c.466A>G ENSP00000349543.4:p.Ile156Val
ENST00000518986.5:c.466A>G ENSP00000429304.1:p.Ile156Val
ENST00000520103.5:c.466A>G ENSP00000428590.1:p.Ile156Val
ENST00000522527.5:c.466A>G ENSP00000428638.1:p.Ile156Val
NM_000318.2:c.466A>G NP_000309.1:p.Ile156Val
NM_001079867.1:c.466A>G NP_001073336.1:p.Ile156Val
NM_001172086.1:c.466A>G NP_001165557.1:p.Ile156Val
NM_001172087.1:c.466A>G NP_001165558.1:p.Ile156Val
NM_000318.3:c.466A>G MANE Select NP_000309.2:p.Ile156Val
NM_001079867.2:c.466A>G NP_001073336.2:p.Ile156Val
NM_001172086.2:c.466A>G NP_001165557.2:p.Ile156Val
NM_001172087.2:c.466A>G NP_001165558.2:p.Ile156Val