Canonical Allele Identifier: CA4788748

Gene: PEX2

Linked Data

• ClinVar Variation Id: 288170
• ClinVar RCV Id: RCV000349532 ; RCV000884934 ; RCV003430823 ; RCV003949912
• dbSNP Id: rs138220337
• ExAC: 8:77896178 T / C
• gnomAD v2: 8-77896178-T-C
• gnomAD v3: 8-76983942-T-C
• gnomAD v4: 8-76983942-T-C
• MyVariant Identifiers: chr8:g.77896178T>C (hg19) ; chr8:g.76983942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.76983942T>C , CM000670.2:g.76983942T>C	GRCh38
NC_000008.10:g.77896178T>C , CM000670.1:g.77896178T>C	GRCh37
NC_000008.9:g.78058733T>C	NCBI36
NG_008371.1:g.21347A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357039.9:c.237A>G MANE Select	ENSP00000349543.4:p.Ser79=
ENST00000357039.8:c.237A>G	ENSP00000349543.4:p.Ser79=
ENST00000518986.5:c.237A>G	ENSP00000429304.1:p.Ser79=
ENST00000520103.5:c.237A>G	ENSP00000428590.1:p.Ser79=
ENST00000522527.5:c.237A>G	ENSP00000428638.1:p.Ser79=
NM_000318.2:c.237A>G	NP_000309.1:p.Ser79=
NM_001079867.1:c.237A>G	NP_001073336.1:p.Ser79=
NM_001172086.1:c.237A>G	NP_001165557.1:p.Ser79=
NM_001172087.1:c.237A>G	NP_001165558.1:p.Ser79=
NM_000318.3:c.237A>G MANE Select	NP_000309.2:p.Ser79=
NM_001079867.2:c.237A>G	NP_001073336.2:p.Ser79=
NM_001172086.2:c.237A>G	NP_001165557.2:p.Ser79=
NM_001172087.2:c.237A>G	NP_001165558.2:p.Ser79=