Canonical Allele Identifier: CA393802056
Gene: IDH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088442T>G , CM000677.2:g.90088442T>G GRCh38
NC_000015.9:g.90631674T>G , CM000677.1:g.90631674T>G GRCh37
NC_000015.8:g.88432678T>G NCBI36
NG_023302.1:g.19035A>C , LRG_611:g.19035A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.595A>C MANE Select ENSP00000331897.4:p.Lys199Gln
ENST00000330062.7:c.595A>C ENSP00000331897.3:p.Lys199Gln
ENST00000540499.2:c.439A>C ENSP00000446147.2:p.Lys147Gln
ENST00000559482.5:c.268A>C ENSP00000453016.1:p.Lys90Gln
ENST00000560061.1:c.*220A>C ENSP00000453254.1:n.*220A>C
NM_001289910.1:c.439A>C , LRG_611t1:c.439A>C NP_001276839.1:p.Lys147Gln
NM_001290114.1:c.205A>C NP_001277043.1:p.Lys69Gln
NM_002168.3:c.595A>C , LRG_611t2:c.595A>C NP_002159.2:p.Lys199Gln
NM_001290114.2:c.205A>C NP_001277043.1:p.Lys69Gln
NM_002168.4:c.595A>C MANE Select NP_002159.2:p.Lys199Gln