Canonical Allele Identifier: CA1795350404
Gene: PEX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983066T= , CM000670.2:g.76983066T= GRCh38
NC_000008.10:g.77895302T= , CM000670.1:g.77895302T= GRCh37
NC_000008.9:g.78057857T= NCBI36
NG_008371.1:g.22223A=

Transcript Alleles

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