Canonical Allele Identifier: CA1795350876
Gene: PEX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983383_76983388delinsAATAAC , CM000670.2:g.76983383_76983388delinsAATAAC GRCh38
NC_000008.10:g.77895619_77895624delinsAATAAC , CM000670.1:g.77895619_77895624delinsAATAAC GRCh37
NC_000008.9:g.78058174_78058179delinsAATAAC NCBI36
NG_008371.1:g.21901_21906delinsGTTATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.791_796delinsGTTATT MANE Select ENSP00000349543.4:p.Cys264=
ENST00000357039.8:c.791_796delinsGTTATT ENSP00000349543.4:p.Cys264=
ENST00000520103.5:c.791_796delinsGTTATT ENSP00000428590.1:p.Cys264=
ENST00000522527.5:c.791_796delinsGTTATT ENSP00000428638.1:p.Cys264=
NM_000318.2:c.791_796delinsGTTATT NP_000309.1:p.Cys264=
NM_001079867.1:c.791_796delinsGTTATT NP_001073336.1:p.Cys264=
NM_001172086.1:c.791_796delinsGTTATT NP_001165557.1:p.Cys264=
NM_001172087.1:c.791_796delinsGTTATT NP_001165558.1:p.Cys264=
NM_000318.3:c.791_796delinsGTTATT MANE Select NP_000309.2:p.Cys264=
NM_001079867.2:c.791_796delinsGTTATT NP_001073336.2:p.Cys264=
NM_001172086.2:c.791_796delinsGTTATT NP_001165557.2:p.Cys264=
NM_001172087.2:c.791_796delinsGTTATT NP_001165558.2:p.Cys264=