Canonical Allele Identifier: CA2687718861

Gene: PEX2

Linked Data

• gnomAD v4: 8-76983542-CATTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983545_76983548del , CM000670.2:g.76983545_76983548del	GRCh38
NC_000008.10:g.77895781_77895784del , CM000670.1:g.77895781_77895784del	GRCh37
NC_000008.9:g.78058336_78058339del	NCBI36
NG_008371.1:g.21743_21746del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357039.9:c.633_636del MANE Select	ENSP00000349543.4:p.Ile211MetfsTer5
ENST00000357039.8:c.633_636del	ENSP00000349543.4:p.Ile211MetfsTer5
ENST00000520103.5:c.633_636del	ENSP00000428590.1:p.Ile211MetfsTer5
ENST00000522527.5:c.633_636del	ENSP00000428638.1:p.Ile211MetfsTer5
NM_000318.2:c.633_636del	NP_000309.1:p.Ile211MetfsTer5
NM_001079867.1:c.633_636del	NP_001073336.1:p.Ile211MetfsTer5
NM_001172086.1:c.633_636del	NP_001165557.1:p.Ile211MetfsTer5
NM_001172087.1:c.633_636del	NP_001165558.1:p.Ile211MetfsTer5
NM_000318.3:c.633_636del MANE Select	NP_000309.2:p.Ile211MetfsTer5
NM_001079867.2:c.633_636del	NP_001073336.2:p.Ile211MetfsTer5
NM_001172086.2:c.633_636del	NP_001165557.2:p.Ile211MetfsTer5
NM_001172087.2:c.633_636del	NP_001165558.2:p.Ile211MetfsTer5