Canonical Allele Identifier: CA10625830
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 363777
ClinVar RCV Id: RCV000275336
dbSNP Id: rs4388434
gnomAD v2: 8-77893120-T-C
gnomAD v3: 8-76980884-T-C
gnomAD v4: 8-76980884-T-C
MyVariant Identifiers: chr8:g.77893120T>C (hg19) chr8:g.76980884T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76980884T>C , CM000670.2:g.76980884T>C GRCh38
NC_000008.10:g.77893120T>C , CM000670.1:g.77893120T>C GRCh37
NC_000008.9:g.78055675T>C NCBI36
NG_008371.1:g.24405A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.*2377A>G MANE Select ENSP00000349543.4:n.*2377A>G
ENST00000357039.8:c.*2377A>G ENSP00000349543.4:n.*2377A>G
NM_000318.2:c.*2377A>G NP_000309.1:n.*2377A>G
NM_001079867.1:c.*2377A>G NP_001073336.1:n.*2377A>G
NM_001172086.1:c.*2377A>G NP_001165557.1:n.*2377A>G
NM_001172087.1:c.*2377A>G NP_001165558.1:n.*2377A>G
NM_000318.3:c.*2377A>G MANE Select NP_000309.2:n.*2377A>G
NM_001079867.2:c.*2377A>G NP_001073336.2:n.*2377A>G
NM_001172086.2:c.*2377A>G NP_001165557.2:n.*2377A>G
NM_001172087.2:c.*2377A>G NP_001165558.2:n.*2377A>G
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