Canonical Allele Identifier: CA583367326

Gene: PEX2

Linked Data

• dbSNP Id: rs1242725105
• gnomAD v2: 8-77895675-CAT-C
• gnomAD v3: 8-76983439-CAT-C
• gnomAD v4: 8-76983439-CAT-C
• MyVariant Identifiers: chr8:g.77895676_77895677del (hg19) ; chr8:g.76983440_76983441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983441_76983442del , CM000670.2:g.76983441_76983442del	GRCh38
NC_000008.10:g.77895677_77895678del , CM000670.1:g.77895677_77895678del	GRCh37
NC_000008.9:g.78058232_78058233del	NCBI36
NG_008371.1:g.21848_21849del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357039.9:c.738_739del MANE Select	ENSP00000349543.4:p.Cys247TrpfsTer13
ENST00000357039.8:c.738_739del	ENSP00000349543.4:p.Cys247TrpfsTer13
ENST00000520103.5:c.738_739del	ENSP00000428590.1:p.Cys247TrpfsTer13
ENST00000522527.5:c.738_739del	ENSP00000428638.1:p.Cys247TrpfsTer13
NM_000318.2:c.738_739del	NP_000309.1:p.Cys247TrpfsTer13
NM_001079867.1:c.738_739del	NP_001073336.1:p.Cys247TrpfsTer13
NM_001172086.1:c.738_739del	NP_001165557.1:p.Cys247TrpfsTer13
NM_001172087.1:c.738_739del	NP_001165558.1:p.Cys247TrpfsTer13
NM_000318.3:c.738_739del MANE Select	NP_000309.2:p.Cys247TrpfsTer13
NM_001079867.2:c.738_739del	NP_001073336.2:p.Cys247TrpfsTer13
NM_001172086.2:c.738_739del	NP_001165557.2:p.Cys247TrpfsTer13
NM_001172087.2:c.738_739del	NP_001165558.2:p.Cys247TrpfsTer13