Canonical Allele Identifier: CA10625826
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 363770
ClinVar RCV Id: RCV000355885
dbSNP Id: rs569387185
gnomAD v2: 8-77892603-A-G
gnomAD v3: 8-76980367-A-G
gnomAD v4: 8-76980367-A-G
MyVariant Identifiers: chr8:g.77892603A>G (hg19) chr8:g.76980367A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76980367A>G , CM000670.2:g.76980367A>G GRCh38
NC_000008.10:g.77892603A>G , CM000670.1:g.77892603A>G GRCh37
NC_000008.9:g.78055158A>G NCBI36
NG_008371.1:g.24922T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.*2894T>C MANE Select ENSP00000349543.4:n.*2894T>C
ENST00000357039.8:c.*2894T>C ENSP00000349543.4:n.*2894T>C
NM_000318.2:c.*2894T>C NP_000309.1:n.*2894T>C
NM_001079867.1:c.*2894T>C NP_001073336.1:n.*2894T>C
NM_001172086.1:c.*2894T>C NP_001165557.1:n.*2894T>C
NM_001172087.1:c.*2894T>C NP_001165558.1:n.*2894T>C
NM_000318.3:c.*2894T>C MANE Select NP_000309.2:n.*2894T>C
NM_001079867.2:c.*2894T>C NP_001073336.2:n.*2894T>C
NM_001172086.2:c.*2894T>C NP_001165557.2:n.*2894T>C
NM_001172087.2:c.*2894T>C NP_001165558.2:n.*2894T>C
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