Canonical Allele Identifier: CA7733273
Community Standard Title: NM_002168.4(IDH2):c.140C>T (p.Ala47Val)
Gene: IDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90091620G>A , CM000677.2:g.90091620G>A GRCh38
NC_000015.9:g.90634852G>A , CM000677.1:g.90634852G>A GRCh37
NC_000015.8:g.88435856G>A NCBI36
NG_023302.1:g.15857C>T , LRG_611:g.15857C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002168.4:c.140C>T MANE Select NP_002159.2:p.Ala47Val
ENST00000330062.8:c.140C>T MANE Select ENSP00000331897.4:p.Ala47Val
NM_001289910.1:c.-17C>T , LRG_611t1:c.-17C>T NP_001276839.1:n.-17C>T
NM_001290114.1:c.-17-2873C>T NP_001277043.1:n.-17-2873C>T
NM_001290114.2:c.-17-2873C>T NP_001277043.1:n.-17-2873C>T
NM_002168.3:c.140C>T , LRG_611t2:c.140C>T NP_002159.2:p.Ala47Val
ENST00000330062.7:c.140C>T ENSP00000331897.3:p.Ala47Val
ENST00000540499.2:c.-17C>T ENSP00000446147.2:n.-17C>T
ENST00000559482.5:c.140C>T ENSP00000453016.1:p.Ala47Val
ENST00000560061.1:c.116-2873C>T ENSP00000453254.1:n.116-2873C>T