Canonical Allele Identifier: CA371557099
Gene: PEX2 HGNC NCBI
dbSNP:
10087163
gnomAD v2:
8:77895865 A / C
gnomAD v3:
8:76983629 A / C
gnomAD v4:
chr8-76983629-A-C
MyVariant.info:
GRCh38 chr8:g.76983629A>C
GRCh37 chr8:g.77895865A>C
Revel Score:
ENST00000357039 (MANE Select) 0.392
ENST00000419564 0.392
ENST00000520103 0.392
ENST00000522527 0.392
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.550T>G MANE Select ENSP00000349543.4:p.Cys184Gly
ENST00000357039.8:c.550T>G ENSP00000349543.4:p.Cys184Gly
ENST00000520103.5:c.550T>G ENSP00000428590.1:p.Cys184Gly
ENST00000522527.5:c.550T>G ENSP00000428638.1:p.Cys184Gly
NM_000318.3:c.550T>G MANE Select NP_000309.2:p.Cys184Gly
NM_001079867.2:c.550T>G NP_001073336.2:p.Cys184Gly
NM_001172086.2:c.550T>G NP_001165557.2:p.Cys184Gly
NM_001172087.2:c.550T>G NP_001165558.2:p.Cys184Gly
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