Canonical Allele Identifier: CA234531
Gene: PEX2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.76983910G>A
GRCh37 chr8:g.77896146G>A
Revel Score:
ENST00000357039 (MANE Select) 0.451
ENST00000419564 0.451
ENST00000520103 0.451
ENST00000522527 0.451
ENST00000518986 0.451
gnomAD v2:
8:77896146 G / A
gnomAD v3:
8:76983910 G / A
gnomAD v4:
chr8-76983910-G-A
Joint Max Group AF 0.00200041 (AFR)
Genomes Max Group AF 0.00178359 (AFR)
Exomes Max Group AF 0.00202192 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983910G>A , CM000670.2:g.76983910G>A GRCh38
NC_000008.10:g.77896146G>A , CM000670.1:g.77896146G>A GRCh37
NC_000008.9:g.78058701G>A NCBI36
NG_008371.1:g.21379C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.269C>T MANE Select ENSP00000349543.4:p.Ser90Phe
ENST00000357039.8:c.269C>T ENSP00000349543.4:p.Ser90Phe
ENST00000518986.5:c.269C>T ENSP00000429304.1:p.Ser90Phe
ENST00000520103.5:c.269C>T ENSP00000428590.1:p.Ser90Phe
ENST00000522527.5:c.269C>T ENSP00000428638.1:p.Ser90Phe
NM_000318.2:c.269C>T NP_000309.1:p.Ser90Phe
NM_001079867.1:c.269C>T NP_001073336.1:p.Ser90Phe
NM_001172086.1:c.269C>T NP_001165557.1:p.Ser90Phe
NM_001172087.1:c.269C>T NP_001165558.1:p.Ser90Phe
NM_000318.3:c.269C>T MANE Select NP_000309.2:p.Ser90Phe
NM_001079867.2:c.269C>T NP_001073336.2:p.Ser90Phe
NM_001172086.2:c.269C>T NP_001165557.2:p.Ser90Phe
NM_001172087.2:c.269C>T NP_001165558.2:p.Ser90Phe
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