Canonical Allele Identifier: CA7733115
Gene: IDH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2167822
ClinVar RCV Id: RCV003086639
dbSNP Id: rs576407061
ExAC: 15:90631593 C / T
gnomAD v2: 15-90631593-C-T
gnomAD v3: 15-90088361-C-T
gnomAD v4: 15-90088361-C-T
COSMIC: COSM4384861
MyVariant Identifiers: chr15:g.90631593C>T (hg19) chr15:g.90088361C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088361C>T , CM000677.2:g.90088361C>T GRCh38
NC_000015.9:g.90631593C>T , CM000677.1:g.90631593C>T GRCh37
NC_000015.8:g.88432597C>T NCBI36
NG_023302.1:g.19116G>A , LRG_611:g.19116G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.676G>A MANE Select ENSP00000331897.4:p.Glu226Lys
ENST00000330062.7:c.676G>A ENSP00000331897.3:p.Glu226Lys
ENST00000540499.2:c.520G>A ENSP00000446147.2:p.Glu174Lys
ENST00000559482.5:c.349G>A ENSP00000453016.1:p.Glu117Lys
ENST00000560061.1:c.*301G>A ENSP00000453254.1:n.*301G>A
NM_001289910.1:c.520G>A , LRG_611t1:c.520G>A NP_001276839.1:p.Glu174Lys
NM_001290114.1:c.286G>A NP_001277043.1:p.Glu96Lys
NM_002168.3:c.676G>A , LRG_611t2:c.676G>A NP_002159.2:p.Glu226Lys
NM_001290114.2:c.286G>A NP_001277043.1:p.Glu96Lys
NM_002168.4:c.676G>A MANE Select NP_002159.2:p.Glu226Lys
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