Canonical Allele Identifier: CA371556498

Gene: PEX2

Linked Data

• dbSNP Id: rs1806894030
• gnomAD v4: 8-76983359-A-G
• MyVariant Identifiers: chr8:g.77895595A>G (hg19) ; chr8:g.76983359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983359A>G , CM000670.2:g.76983359A>G	GRCh38
NC_000008.10:g.77895595A>G , CM000670.1:g.77895595A>G	GRCh37
NC_000008.9:g.78058150A>G	NCBI36
NG_008371.1:g.21930T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.820T>C MANE Select	ENSP00000349543.4:p.Phe274Leu
ENST00000357039.8:c.820T>C	ENSP00000349543.4:p.Phe274Leu
ENST00000520103.5:c.820T>C	ENSP00000428590.1:p.Phe274Leu
ENST00000522527.5:c.820T>C	ENSP00000428638.1:p.Phe274Leu
NM_000318.2:c.820T>C	NP_000309.1:p.Phe274Leu
NM_001079867.1:c.820T>C	NP_001073336.1:p.Phe274Leu
NM_001172086.1:c.820T>C	NP_001165557.1:p.Phe274Leu
NM_001172087.1:c.820T>C	NP_001165558.1:p.Phe274Leu
NM_000318.3:c.820T>C MANE Select	NP_000309.2:p.Phe274Leu
NM_001079867.2:c.820T>C	NP_001073336.2:p.Phe274Leu
NM_001172086.2:c.820T>C	NP_001165557.2:p.Phe274Leu
NM_001172087.2:c.820T>C	NP_001165558.2:p.Phe274Leu