Canonical Allele Identifier: CA154235

Gene: PEX2

Linked Data

• ClinVar Variation Id: 129885
• ClinVar RCV Id: RCV000117903 ; RCV000262649 ; RCV000435678 ; RCV001082068 ; RCV001578657 ; RCV001835683
• dbSNP Id: rs142645936
• ExAC: 8:77895667 A / G
• gnomAD v2: 8-77895667-A-G
• gnomAD v3: 8-76983431-A-G
• gnomAD v4: 8-76983431-A-G
• MyVariant Identifiers: chr8:g.77895667A>G (hg19) ; chr8:g.76983431A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983431A>G , CM000670.2:g.76983431A>G	GRCh38
NC_000008.10:g.77895667A>G , CM000670.1:g.77895667A>G	GRCh37
NC_000008.9:g.78058222A>G	NCBI36
NG_008371.1:g.21858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.748T>C MANE Select	ENSP00000349543.4:p.Trp250Arg
ENST00000357039.8:c.748T>C	ENSP00000349543.4:p.Trp250Arg
ENST00000520103.5:c.748T>C	ENSP00000428590.1:p.Trp250Arg
ENST00000522527.5:c.748T>C	ENSP00000428638.1:p.Trp250Arg
NM_000318.2:c.748T>C	NP_000309.1:p.Trp250Arg
NM_001079867.1:c.748T>C	NP_001073336.1:p.Trp250Arg
NM_001172086.1:c.748T>C	NP_001165557.1:p.Trp250Arg
NM_001172087.1:c.748T>C	NP_001165558.1:p.Trp250Arg
NM_000318.3:c.748T>C MANE Select	NP_000309.2:p.Trp250Arg
NM_001079867.2:c.748T>C	NP_001073336.2:p.Trp250Arg
NM_001172086.2:c.748T>C	NP_001165557.2:p.Trp250Arg
NM_001172087.2:c.748T>C	NP_001165558.2:p.Trp250Arg