Canonical Allele Identifier: CA583367320
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 504137
ClinVar RCV Id: RCV000599473 RCV002532697
dbSNP Id: rs1438831421
gnomAD v2: 8-77895790-G-GT
gnomAD v3: 8-76983554-G-GT
gnomAD v4: 8-76983554-G-GT
MyVariant Identifiers: chr8:g.77895791dup (hg19) chr8:g.77895790_77895791insT (hg19) chr8:g.76983555dup (hg38) chr8:g.76983554_76983555insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983555dup , CM000670.2:g.76983555dup GRCh38
NC_000008.10:g.77895791dup , CM000670.1:g.77895791dup GRCh37
NC_000008.9:g.78058346dup NCBI36
NG_008371.1:g.21734dup

Transcript Alleles

HGVS Amino-acid change
ENST00000357039.9:c.624dup MANE Select ENSP00000349543.4:p.Pro209ThrfsTer24
ENST00000357039.8:c.624dup ENSP00000349543.4:p.Pro209ThrfsTer24
ENST00000520103.5:c.624dup ENSP00000428590.1:p.Pro209ThrfsTer24
ENST00000522527.5:c.624dup ENSP00000428638.1:p.Pro209ThrfsTer24
NM_000318.2:c.624dup NP_000309.1:p.Pro209ThrfsTer24
NM_001079867.1:c.624dup NP_001073336.1:p.Pro209ThrfsTer24
NM_001172086.1:c.624dup NP_001165557.1:p.Pro209ThrfsTer24
NM_001172087.1:c.624dup NP_001165558.1:p.Pro209ThrfsTer24
NM_000318.3:c.624dup MANE Select NP_000309.2:p.Pro209ThrfsTer24
NM_001079867.2:c.624dup NP_001073336.2:p.Pro209ThrfsTer24
NM_001172086.2:c.624dup NP_001165557.2:p.Pro209ThrfsTer24
NM_001172087.2:c.624dup NP_001165558.2:p.Pro209ThrfsTer24
Search 100 bp 5'
Search 100 bp 3'