Canonical Allele Identifier: CA371556658

Gene: PEX2

Linked Data

• ClinVar Variation Id: 2118796
• ClinVar RCV Id: RCV003054334
• MyVariant Identifiers: chr8:g.77895663G>C (hg19) ; chr8:g.76983427G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983427G>C , CM000670.2:g.76983427G>C	GRCh38
NC_000008.10:g.77895663G>C , CM000670.1:g.77895663G>C	GRCh37
NC_000008.9:g.78058218G>C	NCBI36
NG_008371.1:g.21862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.752C>G MANE Select	ENSP00000349543.4:p.Pro251Arg
ENST00000357039.8:c.752C>G	ENSP00000349543.4:p.Pro251Arg
ENST00000520103.5:c.752C>G	ENSP00000428590.1:p.Pro251Arg
ENST00000522527.5:c.752C>G	ENSP00000428638.1:p.Pro251Arg
NM_000318.2:c.752C>G	NP_000309.1:p.Pro251Arg
NM_001079867.1:c.752C>G	NP_001073336.1:p.Pro251Arg
NM_001172086.1:c.752C>G	NP_001165557.1:p.Pro251Arg
NM_001172087.1:c.752C>G	NP_001165558.1:p.Pro251Arg
NM_000318.3:c.752C>G MANE Select	NP_000309.2:p.Pro251Arg
NM_001079867.2:c.752C>G	NP_001073336.2:p.Pro251Arg
NM_001172086.2:c.752C>G	NP_001165557.2:p.Pro251Arg
NM_001172087.2:c.752C>G	NP_001165558.2:p.Pro251Arg