Canonical Allele Identifier: CA10631564

Gene: PEX2

Linked Data

• ClinVar Variation Id: 363783
• ClinVar RCV Id: RCV000286386
• dbSNP Id: rs558850392
• gnomAD v3: 8-76981254-T-A
• gnomAD v4: 8-76981254-T-A
• MyVariant Identifiers: chr8:g.77893490T>A (hg19) ; chr8:g.76981254T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76981254T>A , CM000670.2:g.76981254T>A	GRCh38
NC_000008.10:g.77893490T>A , CM000670.1:g.77893490T>A	GRCh37
NC_000008.9:g.78056045T>A	NCBI36
NG_008371.1:g.24035A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357039.9:c.*2007A>T MANE Select	ENSP00000349543.4:n.*2007A>T
ENST00000357039.8:c.*2007A>T	ENSP00000349543.4:n.*2007A>T
NM_000318.2:c.*2007A>T	NP_000309.1:n.*2007A>T
NM_001079867.1:c.*2007A>T	NP_001073336.1:n.*2007A>T
NM_001172086.1:c.*2007A>T	NP_001165557.1:n.*2007A>T
NM_001172087.1:c.*2007A>T	NP_001165558.1:n.*2007A>T
NM_000318.3:c.*2007A>T MANE Select	NP_000309.2:n.*2007A>T
NM_001079867.2:c.*2007A>T	NP_001073336.2:n.*2007A>T
NM_001172086.2:c.*2007A>T	NP_001165557.2:n.*2007A>T
NM_001172087.2:c.*2007A>T	NP_001165558.2:n.*2007A>T