Canonical Allele Identifier: CA4725258
Gene: IDO2 HGNC NCBI
COSMIC:
COSM3763339 (not active)
COSM3763340 (not active)
MyVariant.info:
GRCh38 chr8:g.40005362C>T
GRCh37 chr8:g.39862881C>T
Revel Score:
ENST00000502986 (MANE Select) 0.510
ENST00000389060 0.510
gnomAD v2:
8:39862881 C / T
gnomAD v3:
8:40005362 C / T
gnomAD v4:
chr8-40005362-C-T
Joint Max Group AF 0.52508723 (SAS)
Genomes Max Group AF 0.52639445 (SAS)
Exomes Max Group AF 0.52404247 (SAS)
ClinVar RCV:
RCV001679562
ClinVar Variation:
1275323
dbSNP:
10109853
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.40005362C>T , CM000670.2:g.40005362C>T GRCh38
NC_000008.10:g.39862881C>T , CM000670.1:g.39862881C>T GRCh37
NC_000008.9:g.39982038C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502986.4:c.703C>T MANE Select ENSP00000443432.2:p.Arg235Trp
ENST00000502986.3:c.703C>T ENSP00000443432.2:p.Arg235Trp
ENST00000343295.8:n.2971-8203C>T
ENST00000389060.8:c.703C>T ENSP00000426447.1:p.Arg235Trp
ENST00000418094.1:n.347-8203C>T
ENST00000502986.2:c.742C>T ENSP00000443432.1:p.Arg248Trp
NM_194294.2:c.742C>T NP_919270.2:p.Arg248Trp
NM_194294.3:c.742C>T NP_919270.2:p.Arg248Trp
NM_001395206.1:c.703C>T NP_001382135.1:p.Arg235Trp
NM_194294.5:c.703C>T MANE Select NP_919270.3:p.Arg235Trp
Search 100 bp 5'
Search 100 bp 3'