Canonical Allele Identifier: CA179988109

Gene: PEX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76982087T>C , CM000670.2:g.76982087T>C	GRCh38
NC_000008.10:g.77894323T>C , CM000670.1:g.77894323T>C	GRCh37
NC_000008.9:g.78056878T>C	NCBI36
NG_008371.1:g.23202A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000318.3:c.*1174A>G MANE Select	NP_000309.2:n.*1174A>G
ENST00000357039.9:c.*1174A>G MANE Select	ENSP00000349543.4:n.*1174A>G
NM_000318.2:c.*1174A>G	NP_000309.1:n.*1174A>G
NM_001079867.1:c.*1174A>G	NP_001073336.1:n.*1174A>G
NM_001079867.2:c.*1174A>G	NP_001073336.2:n.*1174A>G
NM_001172086.1:c.*1174A>G	NP_001165557.1:n.*1174A>G
NM_001172086.2:c.*1174A>G	NP_001165557.2:n.*1174A>G
NM_001172087.1:c.*1174A>G	NP_001165558.1:n.*1174A>G
NM_001172087.2:c.*1174A>G	NP_001165558.2:n.*1174A>G
ENST00000357039.8:c.*1174A>G	ENSP00000349543.4:n.*1174A>G