Canonical Allele Identifier: CA10625839

Gene: PEX2

Linked Data

• ClinVar Variation Id: 363787
• ClinVar RCV Id: RCV000338221
• dbSNP Id: rs886063128
• MyVariant Identifiers: chr8:g.77893686G>A (hg19) ; chr8:g.76981450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76981450G>A , CM000670.2:g.76981450G>A	GRCh38
NC_000008.10:g.77893686G>A , CM000670.1:g.77893686G>A	GRCh37
NC_000008.9:g.78056241G>A	NCBI36
NG_008371.1:g.23839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.*1811C>T MANE Select	ENSP00000349543.4:n.*1811C>T
ENST00000357039.8:c.*1811C>T	ENSP00000349543.4:n.*1811C>T
NM_000318.2:c.*1811C>T	NP_000309.1:n.*1811C>T
NM_001079867.1:c.*1811C>T	NP_001073336.1:n.*1811C>T
NM_001172086.1:c.*1811C>T	NP_001165557.1:n.*1811C>T
NM_001172087.1:c.*1811C>T	NP_001165558.1:n.*1811C>T
NM_000318.3:c.*1811C>T MANE Select	NP_000309.2:n.*1811C>T
NM_001079867.2:c.*1811C>T	NP_001073336.2:n.*1811C>T
NM_001172086.2:c.*1811C>T	NP_001165557.2:n.*1811C>T
NM_001172087.2:c.*1811C>T	NP_001165558.2:n.*1811C>T