ClinVar

NM_001197104.2(KMT2A):c.7363G>A (p.Val2455Met)

Gene:

KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 118503255 (on Assembly GRCh38)
• Chr11: 118373970 (on Assembly GRCh37)

Preferred name:

NM_001197104.2(KMT2A):c.7363G>A (p.Val2455Met)

HGVS:

• NC_000011.10:g.118503255G>A
• NG_027813.1:g.71766G>A
• NM_001197104.2:c.7363G>AMANE SELECT
• NM_001412597.1:c.7453G>A
• NM_005933.4:c.7354G>A
• NP_001184033.1:p.Val2455Met
• NP_001184033.1:p.Val2455Met
• NP_001399526.1:p.Val2485Met
• NP_005924.2:p.Val2452Met
• LRG_613t1:c.7363G>A
• LRG_613:g.71766G>A
• LRG_613p1:p.Val2455Met
• NC_000011.9:g.118373970G>A
• NM_001197104.1:c.7363G>A

This HGVS expression did not pass validation

Protein change:

V2452M

Molecular consequence:

• NM_001197104.2:c.7363G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001412597.1:c.7453G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005933.4:c.7354G>A - missense variant - [Sequence Ontology: SO:0001583]