Canonical Allele Identifier: CA180286
Gene: PEX2 HGNC NCBI
ClinVar RCV:
RCV000153682
RCV000988075
RCV001522468
RCV001826826
ClinVar Variation:
167455
dbSNP:
10087163
gnomAD v2:
8:77895865 A / G
gnomAD v3:
8:76983629 A / G
gnomAD v4:
chr8-76983629-A-G
Joint Max Group AF 0.99220281 (EAS)
Genomes Max Group AF 0.98900103 (AFR)
Exomes Max Group AF 0.99173309 (EAS)
MyVariant.info:
GRCh38 chr8:g.76983629A>G
GRCh37 chr8:g.77895865A>G
Revel Score:
ENST00000357039 (MANE Select) 0.289
ENST00000419564 0.289
ENST00000520103 0.289
ENST00000522527 0.289
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.550T>C MANE Select ENSP00000349543.4:p.Cys184Arg
ENST00000357039.8:c.550T>C ENSP00000349543.4:p.Cys184Arg
ENST00000520103.5:c.550T>C ENSP00000428590.1:p.Cys184Arg
ENST00000522527.5:c.550T>C ENSP00000428638.1:p.Cys184Arg
NM_000318.3:c.550T>C MANE Select NP_000309.2:p.Cys184Arg
NM_001079867.2:c.550T>C NP_001073336.2:p.Cys184Arg
NM_001172086.2:c.550T>C NP_001165557.2:p.Cys184Arg
NM_001172087.2:c.550T>C NP_001165558.2:p.Cys184Arg
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