Canonical Allele Identifier: CA393817921
Gene: IDH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427064
ClinVar RCV Id: RCV000490196
dbSNP Id: rs1085307936

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90084337G>A , CM000677.2:g.90084337G>A GRCh38
NC_000015.9:g.90627569G>A , CM000677.1:g.90627569G>A GRCh37
NC_000015.8:g.88428573G>A NCBI36
NG_023302.1:g.23140C>T , LRG_611:g.23140C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000330062.8:c.1288C>T MANE Select ENSP00000331897.4:p.His430Tyr
ENST00000330062.7:c.1288C>T ENSP00000331897.3:p.His430Tyr
ENST00000540499.2:c.1132C>T ENSP00000446147.2:p.His378Tyr
ENST00000559482.5:c.868C>T ENSP00000453016.1:p.His290Tyr
ENST00000560061.1:c.*913C>T ENSP00000453254.1:n.*913C>T
NM_001289910.1:c.1132C>T , LRG_611t1:c.1132C>T NP_001276839.1:p.His378Tyr
NM_001290114.1:c.898C>T NP_001277043.1:p.His300Tyr
NM_002168.3:c.1288C>T , LRG_611t2:c.1288C>T NP_002159.2:p.His430Tyr
NM_001290114.2:c.898C>T NP_001277043.1:p.His300Tyr
NM_002168.4:c.1288C>T MANE Select NP_002159.2:p.His430Tyr