Canonical Allele Identifier: CA393802139
Gene: IDH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088484C>A , CM000677.2:g.90088484C>A GRCh38
NC_000015.9:g.90631716C>A , CM000677.1:g.90631716C>A GRCh37
NC_000015.8:g.88432720C>A NCBI36
NG_023302.1:g.18993G>T , LRG_611:g.18993G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.553G>T MANE Select ENSP00000331897.4:p.Val185Leu
ENST00000330062.7:c.553G>T ENSP00000331897.3:p.Val185Leu
ENST00000540499.2:c.397G>T ENSP00000446147.2:p.Val133Leu
ENST00000559482.5:c.226G>T ENSP00000453016.1:p.Val76Leu
ENST00000560061.1:c.*178G>T ENSP00000453254.1:n.*178G>T
NM_001289910.1:c.397G>T , LRG_611t1:c.397G>T NP_001276839.1:p.Val133Leu
NM_001290114.1:c.163G>T NP_001277043.1:p.Val55Leu
NM_002168.3:c.553G>T , LRG_611t2:c.553G>T NP_002159.2:p.Val185Leu
NM_001290114.2:c.163G>T NP_001277043.1:p.Val55Leu
NM_002168.4:c.553G>T MANE Select NP_002159.2:p.Val185Leu