Canonical Allele Identifier: CA371557859
Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1406067
ClinVar RCV Id: RCV001915647
dbSNP Id: rs1180720095
gnomAD v2: 8-77896209-A-G
gnomAD v4: 8-76983973-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.76983973A>G , CM000670.2:g.76983973A>G GRCh38
NC_000008.10:g.77896209A>G , CM000670.1:g.77896209A>G GRCh37
NC_000008.9:g.78058764A>G NCBI36
NG_008371.1:g.21316T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357039.9:c.206T>C MANE Select ENSP00000349543.4:p.Ile69Thr
ENST00000357039.8:c.206T>C ENSP00000349543.4:p.Ile69Thr
ENST00000518986.5:c.206T>C ENSP00000429304.1:p.Ile69Thr
ENST00000520103.5:c.206T>C ENSP00000428590.1:p.Ile69Thr
ENST00000522527.5:c.206T>C ENSP00000428638.1:p.Ile69Thr
NM_000318.2:c.206T>C NP_000309.1:p.Ile69Thr
NM_001079867.1:c.206T>C NP_001073336.1:p.Ile69Thr
NM_001172086.1:c.206T>C NP_001165557.1:p.Ile69Thr
NM_001172087.1:c.206T>C NP_001165558.1:p.Ile69Thr
NM_000318.3:c.206T>C MANE Select NP_000309.2:p.Ile69Thr
NM_001079867.2:c.206T>C NP_001073336.2:p.Ile69Thr
NM_001172086.2:c.206T>C NP_001165557.2:p.Ile69Thr
NM_001172087.2:c.206T>C NP_001165558.2:p.Ile69Thr