Canonical Allele Identifier: CA7732949
Community Standard Title: NM_002168.4(IDH2):c.1167A>G (p.Gln389=)
Gene: IDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90085012T>C , CM000677.2:g.90085012T>C GRCh38
NC_000015.9:g.90628244T>C , CM000677.1:g.90628244T>C GRCh37
NC_000015.8:g.88429248T>C NCBI36
NG_023302.1:g.22465A>G , LRG_611:g.22465A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002168.4:c.1167A>G MANE Select NP_002159.2:p.Gln389=
ENST00000330062.8:c.1167A>G MANE Select ENSP00000331897.4:p.Gln389=
NM_001289910.1:c.1011A>G , LRG_611t1:c.1011A>G NP_001276839.1:p.Gln337=
NM_001290114.1:c.777A>G NP_001277043.1:p.Gln259=
NM_001290114.2:c.777A>G NP_001277043.1:p.Gln259=
NM_002168.3:c.1167A>G , LRG_611t2:c.1167A>G NP_002159.2:p.Gln389=
ENST00000330062.7:c.1167A>G ENSP00000331897.3:p.Gln389=
ENST00000540499.2:c.1011A>G ENSP00000446147.2:p.Gln337=
ENST00000559482.5:c.840A>G ENSP00000453016.1:p.Gln280=
ENST00000560061.1:c.*792A>G ENSP00000453254.1:n.*792A>G