Canonical Allele Identifier: CA7732911
Community Standard Title: NM_002168.4(IDH2):c.1248G>A (p.Ala416=)
Gene: IDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90084839C>T , CM000677.2:g.90084839C>T GRCh38
NC_000015.9:g.90628071C>T , CM000677.1:g.90628071C>T GRCh37
NC_000015.8:g.88429075C>T NCBI36
NG_023302.1:g.22638G>A , LRG_611:g.22638G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002168.4:c.1248G>A MANE Select NP_002159.2:p.Ala416=
ENST00000330062.8:c.1248G>A MANE Select ENSP00000331897.4:p.Ala416=
NM_001289910.1:c.1092G>A , LRG_611t1:c.1092G>A NP_001276839.1:p.Ala364=
NM_001290114.1:c.858G>A NP_001277043.1:p.Ala286=
NM_001290114.2:c.858G>A NP_001277043.1:p.Ala286=
NM_002168.3:c.1248G>A , LRG_611t2:c.1248G>A NP_002159.2:p.Ala416=
ENST00000330062.7:c.1248G>A ENSP00000331897.3:p.Ala416=
ENST00000540499.2:c.1092G>A ENSP00000446147.2:p.Ala364=
ENST00000559482.5:c.851+162G>A ENSP00000453016.1:n.851+162G>A
ENST00000560061.1:c.*873G>A ENSP00000453254.1:n.*873G>A