Canonical Allele Identifier: CA10631610
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 363788
ClinVar RCV Id: RCV000398488
dbSNP Id: rs60300869
gnomAD v2: 8-77893732-C-T
gnomAD v3: 8-76981496-C-T
gnomAD v4: 8-76981496-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76981496C>T , CM000670.2:g.76981496C>T GRCh38
NC_000008.10:g.77893732C>T , CM000670.1:g.77893732C>T GRCh37
NC_000008.9:g.78056287C>T NCBI36
NG_008371.1:g.23793G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.*1765G>A MANE Select ENSP00000349543.4:n.*1765G>A
ENST00000357039.8:c.*1765G>A ENSP00000349543.4:n.*1765G>A
NM_000318.2:c.*1765G>A NP_000309.1:n.*1765G>A
NM_001079867.1:c.*1765G>A NP_001073336.1:n.*1765G>A
NM_001172086.1:c.*1765G>A NP_001165557.1:n.*1765G>A
NM_001172087.1:c.*1765G>A NP_001165558.1:n.*1765G>A
NM_000318.3:c.*1765G>A MANE Select NP_000309.2:n.*1765G>A
NM_001079867.2:c.*1765G>A NP_001073336.2:n.*1765G>A
NM_001172086.2:c.*1765G>A NP_001165557.2:n.*1765G>A
NM_001172087.2:c.*1765G>A NP_001165558.2:n.*1765G>A