Canonical Allele Identifier: CA4788641

Gene: PEX2

Linked Data

• dbSNP Id: rs762332718
• ExAC: 8:77895565 CA / C
• gnomAD v2: 8-77895565-CA-C
• MyVariant Identifiers: chr8:g.77895566del (hg19) ; chr8:g.76983330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983330del , CM000670.2:g.76983330del	GRCh38
NC_000008.10:g.77895566del , CM000670.1:g.77895566del	GRCh37
NC_000008.9:g.78058121del	NCBI36
NG_008371.1:g.21959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.849del MANE Select	ENSP00000349543.4:p.Cys283TrpfsTer11
ENST00000357039.8:c.849del	ENSP00000349543.4:p.Cys283TrpfsTer11
ENST00000520103.5:c.849del	ENSP00000428590.1:p.Cys283TrpfsTer11
ENST00000522527.5:c.849del	ENSP00000428638.1:p.Cys283TrpfsTer11
NM_000318.2:c.849del	NP_000309.1:p.Cys283TrpfsTer11
NM_001079867.1:c.849del	NP_001073336.1:p.Cys283TrpfsTer11
NM_001172086.1:c.849del	NP_001165557.1:p.Cys283TrpfsTer11
NM_001172087.1:c.849del	NP_001165558.1:p.Cys283TrpfsTer11
NM_000318.3:c.849del MANE Select	NP_000309.2:p.Cys283TrpfsTer11
NM_001079867.2:c.849del	NP_001073336.2:p.Cys283TrpfsTer11
NM_001172086.2:c.849del	NP_001165557.2:p.Cys283TrpfsTer11
NM_001172087.2:c.849del	NP_001165558.2:p.Cys283TrpfsTer11