Canonical Allele Identifier: CA2780920861

Gene: PEX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983977_76983978insA , CM000670.2:g.76983977_76983978insA	GRCh38
NC_000008.10:g.77896213_77896214insA , CM000670.1:g.77896213_77896214insA	GRCh37
NC_000008.9:g.78058768_78058769insA	NCBI36
NG_008371.1:g.21311_21312insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.201_202insT MANE Select	ENSP00000349543.4:p.Thr68TyrfsTer17
ENST00000357039.8:c.201_202insT	ENSP00000349543.4:p.Thr68TyrfsTer17
ENST00000518986.5:c.201_202insT	ENSP00000429304.1:p.Thr68TyrfsTer17
ENST00000520103.5:c.201_202insT	ENSP00000428590.1:p.Thr68TyrfsTer17
ENST00000522527.5:c.201_202insT	ENSP00000428638.1:p.Thr68TyrfsTer17
NM_000318.2:c.201_202insT	NP_000309.1:p.Thr68TyrfsTer17
NM_001079867.1:c.201_202insT	NP_001073336.1:p.Thr68TyrfsTer17
NM_001172086.1:c.201_202insT	NP_001165557.1:p.Thr68TyrfsTer17
NM_001172087.1:c.201_202insT	NP_001165558.1:p.Thr68TyrfsTer17
NM_000318.3:c.201_202insT MANE Select	NP_000309.2:p.Thr68TyrfsTer17
NM_001079867.2:c.201_202insT	NP_001073336.2:p.Thr68TyrfsTer17
NM_001172086.2:c.201_202insT	NP_001165557.2:p.Thr68TyrfsTer17
NM_001172087.2:c.201_202insT	NP_001165558.2:p.Thr68TyrfsTer17