Canonical Allele Identifier: CA1795350390

Gene: PEX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983054_76983055delinsTA , CM000670.2:g.76983054_76983055delinsTA	GRCh38
NC_000008.10:g.77895290_77895291delinsTA , CM000670.1:g.77895290_77895291delinsTA	GRCh37
NC_000008.9:g.78057845_78057846delinsTA	NCBI36
NG_008371.1:g.22234_22235delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.*206_*207delinsTA MANE Select	ENSP00000349543.4:n.*206_*207delinsTA
ENST00000357039.8:c.*206_*207delinsTA	ENSP00000349543.4:n.*206_*207delinsTA
ENST00000520103.5:c.*206_*207delinsTA	ENSP00000428590.1:n.*206_*207delinsTA
ENST00000522527.5:c.*206_*207delinsTA	ENSP00000428638.1:n.*206_*207delinsTA
NM_000318.2:c.*206_*207delinsTA	NP_000309.1:n.*206_*207delinsTA
NM_001079867.1:c.*206_*207delinsTA	NP_001073336.1:n.*206_*207delinsTA
NM_001172086.1:c.*206_*207delinsTA	NP_001165557.1:n.*206_*207delinsTA
NM_001172087.1:c.*206_*207delinsTA	NP_001165558.1:n.*206_*207delinsTA
NM_000318.3:c.*206_*207delinsTA MANE Select	NP_000309.2:n.*206_*207delinsTA
NM_001079867.2:c.*206_*207delinsTA	NP_001073336.2:n.*206_*207delinsTA
NM_001172086.2:c.*206_*207delinsTA	NP_001165557.2:n.*206_*207delinsTA
NM_001172087.2:c.*206_*207delinsTA	NP_001165558.2:n.*206_*207delinsTA