Canonical Allele Identifier: CA10631571
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 363798
ClinVar RCV Id: RCV000324558
dbSNP Id: rs4311633
gnomAD v2: 8-77894303-T-C
gnomAD v3: 8-76982067-T-C
gnomAD v4: 8-76982067-T-C
MyVariant Identifiers: chr8:g.77894303T>C (hg19) chr8:g.76982067T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76982067T>C , CM000670.2:g.76982067T>C GRCh38
NC_000008.10:g.77894303T>C , CM000670.1:g.77894303T>C GRCh37
NC_000008.9:g.78056858T>C NCBI36
NG_008371.1:g.23222A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.*1194A>G MANE Select ENSP00000349543.4:n.*1194A>G
ENST00000357039.8:c.*1194A>G ENSP00000349543.4:n.*1194A>G
NM_000318.2:c.*1194A>G NP_000309.1:n.*1194A>G
NM_001079867.1:c.*1194A>G NP_001073336.1:n.*1194A>G
NM_001172086.1:c.*1194A>G NP_001165557.1:n.*1194A>G
NM_001172087.1:c.*1194A>G NP_001165558.1:n.*1194A>G
NM_000318.3:c.*1194A>G MANE Select NP_000309.2:n.*1194A>G
NM_001079867.2:c.*1194A>G NP_001073336.2:n.*1194A>G
NM_001172086.2:c.*1194A>G NP_001165557.2:n.*1194A>G
NM_001172087.2:c.*1194A>G NP_001165558.2:n.*1194A>G
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