Canonical Allele Identifier: CA2687718757

Gene: PEX2

Linked Data

• gnomAD v4: 8-76983064-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983066_76983067dup , CM000670.2:g.76983066_76983067dup	GRCh38
NC_000008.10:g.77895302_77895303dup , CM000670.1:g.77895302_77895303dup	GRCh37
NC_000008.9:g.78057857_78057858dup	NCBI36
NG_008371.1:g.22223_22224dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.*195_*196dup MANE Select	ENSP00000349543.4:n.*195_*196dup
ENST00000357039.8:c.*195_*196dup	ENSP00000349543.4:n.*195_*196dup
ENST00000520103.5:c.*195_*196dup	ENSP00000428590.1:n.*195_*196dup
ENST00000522527.5:c.*195_*196dup	ENSP00000428638.1:n.*195_*196dup
NM_000318.2:c.*195_*196dup	NP_000309.1:n.*195_*196dup
NM_001079867.1:c.*195_*196dup	NP_001073336.1:n.*195_*196dup
NM_001172086.1:c.*195_*196dup	NP_001165557.1:n.*195_*196dup
NM_001172087.1:c.*195_*196dup	NP_001165558.1:n.*195_*196dup
NM_000318.3:c.*195_*196dup MANE Select	NP_000309.2:n.*195_*196dup
NM_001079867.2:c.*195_*196dup	NP_001073336.2:n.*195_*196dup
NM_001172086.2:c.*195_*196dup	NP_001165557.2:n.*195_*196dup
NM_001172087.2:c.*195_*196dup	NP_001165558.2:n.*195_*196dup