ClinVar

NM_004456.5(EZH2):c.2214C>T (p.Ala738=)

Gene:

EZH2:enhancer of zeste 2 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 148807688 (on Assembly GRCh38)
• Chr7: 148504780 (on Assembly GRCh37)

Preferred name:

NM_004456.5(EZH2):c.2214C>T (p.Ala738=)

HGVS:

• NC_000007.14:g.148807688G>A
• NG_032043.1:g.81662C>T
• NG_112728.1:g.49G>A
• NM_001203247.2:c.2199C>T
• NM_001203248.2:c.2172C>T
• NM_001203249.2:c.2046C>T
• NM_004456.5:c.2214C>TMANE SELECT
• NM_152998.3:c.2082C>T
• NP_001190176.1:p.Ala733=
• NP_001190177.1:p.Ala724=
• NP_001190178.1:p.Ala682=
• NP_004447.2:p.Ala738=
• NP_004447.2:p.Ala738=
• NP_694543.1:p.Ala694=
• LRG_531t1:c.2214C>T
• LRG_531:g.81662C>T
• LRG_531p1:p.Ala738=
• NC_000007.13:g.148504780G>A
• NM_004456.4:c.2214C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001203247.2:c.2199C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001203248.2:c.2172C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001203249.2:c.2046C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004456.5:c.2214C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152998.3:c.2082C>T - synonymous variant - [Sequence Ontology: SO:0001819]