Canonical Allele Identifier: CA2579209480

Gene: PEX2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983079A>G , CM000670.2:g.76983079A>G	GRCh38
NC_000008.10:g.77895315A>G , CM000670.1:g.77895315A>G	GRCh37
NC_000008.9:g.78057870A>G	NCBI36
NG_008371.1:g.22210T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.*182T>C MANE Select	ENSP00000349543.4:n.*182T>C
ENST00000357039.8:c.*182T>C	ENSP00000349543.4:n.*182T>C
ENST00000520103.5:c.*182T>C	ENSP00000428590.1:n.*182T>C
ENST00000522527.5:c.*182T>C	ENSP00000428638.1:n.*182T>C
NM_000318.2:c.*182T>C	NP_000309.1:n.*182T>C
NM_001079867.1:c.*182T>C	NP_001073336.1:n.*182T>C
NM_001172086.1:c.*182T>C	NP_001165557.1:n.*182T>C
NM_001172087.1:c.*182T>C	NP_001165558.1:n.*182T>C
NM_000318.3:c.*182T>C MANE Select	NP_000309.2:n.*182T>C
NM_001079867.2:c.*182T>C	NP_001073336.2:n.*182T>C
NM_001172086.2:c.*182T>C	NP_001165557.2:n.*182T>C
NM_001172087.2:c.*182T>C	NP_001165558.2:n.*182T>C