Canonical Allele Identifier: CA371556738

Gene: PEX2

Linked Data

• ClinVar Variation Id: 2117863
• ClinVar RCV Id: RCV003039400
• dbSNP Id: rs1806898835
• gnomAD v3: 8-76983464-T-A
• gnomAD v4: 8-76983464-T-A
• COSMIC: COSM6181959
• MyVariant Identifiers: chr8:g.77895700T>A (hg19) ; chr8:g.76983464T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983464T>A , CM000670.2:g.76983464T>A	GRCh38
NC_000008.10:g.77895700T>A , CM000670.1:g.77895700T>A	GRCh37
NC_000008.9:g.78058255T>A	NCBI36
NG_008371.1:g.21825A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357039.9:c.715A>T MANE Select	ENSP00000349543.4:p.Thr239Ser
ENST00000357039.8:c.715A>T	ENSP00000349543.4:p.Thr239Ser
ENST00000520103.5:c.715A>T	ENSP00000428590.1:p.Thr239Ser
ENST00000522527.5:c.715A>T	ENSP00000428638.1:p.Thr239Ser
NM_000318.2:c.715A>T	NP_000309.1:p.Thr239Ser
NM_001079867.1:c.715A>T	NP_001073336.1:p.Thr239Ser
NM_001172086.1:c.715A>T	NP_001165557.1:p.Thr239Ser
NM_001172087.1:c.715A>T	NP_001165558.1:p.Thr239Ser
NM_000318.3:c.715A>T MANE Select	NP_000309.2:p.Thr239Ser
NM_001079867.2:c.715A>T	NP_001073336.2:p.Thr239Ser
NM_001172086.2:c.715A>T	NP_001165557.2:p.Thr239Ser
NM_001172087.2:c.715A>T	NP_001165558.2:p.Thr239Ser