Canonical Allele Identifier: CA915945750

Gene: PEX2

Linked Data

• ClinVar Variation Id: 653188
• ClinVar RCV Id: RCV000808915
• dbSNP Id: rs1586070089

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983965del , CM000670.2:g.76983965del	GRCh38
NC_000008.10:g.77896201del , CM000670.1:g.77896201del	GRCh37
NC_000008.9:g.78058756del	NCBI36
NG_008371.1:g.21328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.218del MANE Select	ENSP00000349543.4:p.Asn73MetfsTer9
ENST00000357039.8:c.218del	ENSP00000349543.4:p.Asn73MetfsTer9
ENST00000518986.5:c.218del	ENSP00000429304.1:p.Asn73MetfsTer9
ENST00000520103.5:c.218del	ENSP00000428590.1:p.Asn73MetfsTer9
ENST00000522527.5:c.218del	ENSP00000428638.1:p.Asn73MetfsTer9
NM_000318.2:c.218del	NP_000309.1:p.Asn73MetfsTer9
NM_001079867.1:c.218del	NP_001073336.1:p.Asn73MetfsTer9
NM_001172086.1:c.218del	NP_001165557.1:p.Asn73MetfsTer9
NM_001172087.1:c.218del	NP_001165558.1:p.Asn73MetfsTer9
NM_000318.3:c.218del MANE Select	NP_000309.2:p.Asn73MetfsTer9
NM_001079867.2:c.218del	NP_001073336.2:p.Asn73MetfsTer9
NM_001172086.2:c.218del	NP_001165557.2:p.Asn73MetfsTer9
NM_001172087.2:c.218del	NP_001165558.2:p.Asn73MetfsTer9