Canonical Allele Identifier: CA371556992

Gene: PEX2

Linked Data

• ClinVar Variation Id: 2434656
• ClinVar RCV Id: RCV003134796
• gnomAD v4: 8-76983583-C-T
• MyVariant Identifiers: chr8:g.77895819C>T (hg19) ; chr8:g.76983583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983583C>T , CM000670.2:g.76983583C>T	GRCh38
NC_000008.10:g.77895819C>T , CM000670.1:g.77895819C>T	GRCh37
NC_000008.9:g.78058374C>T	NCBI36
NG_008371.1:g.21706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.596G>A MANE Select	ENSP00000349543.4:p.Gly199Asp
ENST00000357039.8:c.596G>A	ENSP00000349543.4:p.Gly199Asp
ENST00000520103.5:c.596G>A	ENSP00000428590.1:p.Gly199Asp
ENST00000522527.5:c.596G>A	ENSP00000428638.1:p.Gly199Asp
NM_000318.2:c.596G>A	NP_000309.1:p.Gly199Asp
NM_001079867.1:c.596G>A	NP_001073336.1:p.Gly199Asp
NM_001172086.1:c.596G>A	NP_001165557.1:p.Gly199Asp
NM_001172087.1:c.596G>A	NP_001165558.1:p.Gly199Asp
NM_000318.3:c.596G>A MANE Select	NP_000309.2:p.Gly199Asp
NM_001079867.2:c.596G>A	NP_001073336.2:p.Gly199Asp
NM_001172086.2:c.596G>A	NP_001165557.2:p.Gly199Asp
NM_001172087.2:c.596G>A	NP_001165558.2:p.Gly199Asp