Preferred Label : EZH2 NP_004447.2:p.Y646D;
NCIt synonyms : Enhancer of Zeste Homolog 2 Tyr646Asp; Lysine N-Methyltransferase 6 Tyr646Asp; NP_004447.2:p.Y646D; EZH2 Tyr646Asp; EZH2 p.Tyr646Asp; Histone-Lysine N-Methyltransferase EZH2 Y646D; ENX-1 Y646D; EZH2 NP_004447.2:p.Tyr646Asp; Enhancer of Zeste Homolog 2 Y646D; NP_004447.2:p.Tyr646Asp; Lysine N-Methyltransferase 6 Y646D; EZH2 Y646D; Histone-Lysine N-Methyltransferase EZH2 Tyr646Asp; EZH2 p.Y646D; ENX-1 Tyr646Asp;
NCIt definition : A change in the amino acid residue at position 646 in the histone-lysine N-methyltransferase
EZH2 protein where tyrosine has been replaced by aspartic acid.;
NCI Metathesaurus CUI : CL1793687;
Origin ID : C188781;
UMLS CUI : C5708029;
Semantic type(s)
gene_product_variant_of_gene_product
molecular_abnormality_involves_gene