Canonical Allele Identifier: CA10625828
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 363772
ClinVar RCV Id: RCV000316203
dbSNP Id: rs28435921
gnomAD v2: 8-77892834-A-T
gnomAD v3: 8-76980598-A-T
gnomAD v4: 8-76980598-A-T
MyVariant Identifiers: chr8:g.77892834A>T (hg19) chr8:g.76980598A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76980598A>T , CM000670.2:g.76980598A>T GRCh38
NC_000008.10:g.77892834A>T , CM000670.1:g.77892834A>T GRCh37
NC_000008.9:g.78055389A>T NCBI36
NG_008371.1:g.24691T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.*2663T>A MANE Select ENSP00000349543.4:n.*2663T>A
ENST00000357039.8:c.*2663T>A ENSP00000349543.4:n.*2663T>A
NM_000318.2:c.*2663T>A NP_000309.1:n.*2663T>A
NM_001079867.1:c.*2663T>A NP_001073336.1:n.*2663T>A
NM_001172086.1:c.*2663T>A NP_001165557.1:n.*2663T>A
NM_001172087.1:c.*2663T>A NP_001165558.1:n.*2663T>A
NM_000318.3:c.*2663T>A MANE Select NP_000309.2:n.*2663T>A
NM_001079867.2:c.*2663T>A NP_001073336.2:n.*2663T>A
NM_001172086.2:c.*2663T>A NP_001165557.2:n.*2663T>A
NM_001172087.2:c.*2663T>A NP_001165558.2:n.*2663T>A
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