Canonical Allele Identifier: CA2695201488

Gene: PEX2

Linked Data

• ClinVar Variation Id: 2677675
• ClinVar RCV Id: RCV003476809

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983371_76983372insA , CM000670.2:g.76983371_76983372insA	GRCh38
NC_000008.10:g.77895607_77895608insA , CM000670.1:g.77895607_77895608insA	GRCh37
NC_000008.9:g.78058162_78058163insA	NCBI36
NG_008371.1:g.21917_21918insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.807_808insT MANE Select	ENSP00000349543.4:p.Ser270Ter
ENST00000357039.8:c.807_808insT	ENSP00000349543.4:p.Ser270Ter
ENST00000520103.5:c.807_808insT	ENSP00000428590.1:p.Ser270Ter
ENST00000522527.5:c.807_808insT	ENSP00000428638.1:p.Ser270Ter
NM_000318.2:c.807_808insT	NP_000309.1:p.Ser270Ter
NM_001079867.1:c.807_808insT	NP_001073336.1:p.Ser270Ter
NM_001172086.1:c.807_808insT	NP_001165557.1:p.Ser270Ter
NM_001172087.1:c.807_808insT	NP_001165558.1:p.Ser270Ter
NM_000318.3:c.807_808insT MANE Select	NP_000309.2:p.Ser270Ter
NM_001079867.2:c.807_808insT	NP_001073336.2:p.Ser270Ter
NM_001172086.2:c.807_808insT	NP_001165557.2:p.Ser270Ter
NM_001172087.2:c.807_808insT	NP_001165558.2:p.Ser270Ter