Canonical Allele Identifier: CA124277
Gene: IDH2 HGNC NCBI
COSMIC:
COSM41590
MyVariant.info:
GRCh38 chr15:g.90088702C>T
GRCh37 chr15:g.90631934C>T
Revel Score:
ENST00000330062 (MANE Select) 0.891
ENST00000539790 0.891
ENST00000540499 0.891
gnomAD v2:
15:90631934 C / T
gnomAD v3:
15:90088702 C / T
gnomAD v4:
chr15-90088702-C-T
Joint Max Group AF 0.00004101 (NFE)
Genomes Max Group AF 0.00004766 (NFE)
Exomes Max Group AF 0.00003804 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088702C>T , CM000677.2:g.90088702C>T GRCh38
NC_000015.9:g.90631934C>T , CM000677.1:g.90631934C>T GRCh37
NC_000015.8:g.88432938C>T NCBI36
NG_023302.1:g.18775G>A , LRG_611:g.18775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.419G>A MANE Select ENSP00000331897.4:p.Arg140Gln
ENST00000330062.7:c.419G>A ENSP00000331897.3:p.Arg140Gln
ENST00000540499.2:c.263G>A ENSP00000446147.2:p.Arg88Gln
ENST00000559482.5:c.208-200G>A ENSP00000453016.1:n.208-200G>A
ENST00000560061.1:c.*44G>A ENSP00000453254.1:n.*44G>A
NM_001289910.1:c.263G>A , LRG_611t1:c.263G>A NP_001276839.1:p.Arg88Gln
NM_001290114.1:c.29G>A NP_001277043.1:p.Arg10Gln
NM_002168.3:c.419G>A , LRG_611t2:c.419G>A NP_002159.2:p.Arg140Gln
NM_001290114.2:c.29G>A NP_001277043.1:p.Arg10Gln
NM_002168.4:c.419G>A MANE Select NP_002159.2:p.Arg140Gln
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