{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382816025",
  "communityStandardTitle": [
    "NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1690843[alleleid]",
        "alleleId": 1690843,
        "preferredName": "NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1698465",
        "RCV": [
          "RCV002271742"
        ],
        "variationId": 1698465
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118375373A>C?assembly=hg19",
        "id": "chr11:g.118375373A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118504658A>C?assembly=hg38",
        "id": "chr11:g.118504658A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2134400611",
        "rs": 2134400611
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118504658,
          "referenceAllele": "A",
          "start": 118504657
        }
      ],
      "hgvs": [
        "NC_000011.10:g.118504658A>C",
        "CM000673.2:g.118504658A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118375373,
          "referenceAllele": "A",
          "start": 118375372
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118375373A>C",
        "CM000673.1:g.118375373A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 117880583,
          "referenceAllele": "A",
          "start": 117880582
        }
      ],
      "hgvs": [
        "NC_000011.8:g.117880583A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73169,
          "referenceAllele": "A",
          "start": 73168
        }
      ],
      "hgvs": [
        "NG_027813.1:g.73169A>C",
        "LRG_613:g.73169A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003978"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8886,
          "referenceAllele": "A",
          "start": 8885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000531904.7:c.8865A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432391.3:p.Glu2955Asp",
        "hgvsWellDefined": "ENSP00000432391.3:p.Glu2955Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8912,
          "referenceAllele": "A",
          "start": 8911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000710560.1:c.8856A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518343.1:p.Glu2952Asp",
        "hgvsWellDefined": "ENSP00000518343.1:p.Glu2952Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2805,
          "referenceAllele": "A",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000649878.2:c.2805A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497891.2:p.Glu935Asp",
        "hgvsWellDefined": "ENSP00000497891.2:p.Glu935Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826796"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2805,
          "referenceAllele": "A",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000685397.1:c.2805A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509586.1:p.Glu935Asp",
        "hgvsWellDefined": "ENSP00000509586.1:p.Glu935Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2805,
          "referenceAllele": "A",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000686370.1:c.2805A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509179.1:p.Glu935Asp",
        "hgvsWellDefined": "ENSP00000509179.1:p.Glu935Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3063,
          "referenceAllele": "A",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000689424.1:c.3063A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509852.1:p.Glu1021Asp",
        "hgvsWellDefined": "ENSP00000509852.1:p.Glu1021Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8846,
          "referenceAllele": "A",
          "start": 8845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000691053.1:c.8838A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509168.1:p.Glu2946Asp",
        "hgvsWellDefined": "ENSP00000509168.1:p.Glu2946Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8780,
          "referenceAllele": "A",
          "start": 8779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000389506.10:c.8757A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374157.5:p.Glu2919Asp",
        "hgvsWellDefined": "ENSP00000374157.5:p.Glu2919Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8108,
          "referenceAllele": "A",
          "start": 8107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000528278.2:n.8108A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8787,
          "referenceAllele": "A",
          "start": 8786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000534358.8:c.8766A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436786.2:p.Glu2922Asp",
        "hgvsWellDefined": "ENSP00000436786.2:p.Glu2922Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534358.8:c.8766A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001197104.2:c.8766A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436786.2:p.Glu2922Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001184033.1:p.Glu2922Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8643,
          "referenceAllele": "A",
          "start": 8642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000649699.1:c.8643A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496927.1:p.Glu2881Asp",
        "hgvsWellDefined": "ENSP00000496927.1:p.Glu2881Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8757,
          "referenceAllele": "A",
          "start": 8756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000389506.9:c.8757A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374157.5:p.Glu2919Asp",
        "hgvsWellDefined": "ENSP00000374157.5:p.Glu2919Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8789,
          "referenceAllele": "A",
          "start": 8788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000534358.5:c.8766A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436786.1:p.Glu2922Asp",
        "hgvsWellDefined": "ENSP00000436786.1:p.Glu2922Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580171533",
      "coordinates": [
        {
          "allele": "C",
          "end": 8789,
          "referenceAllele": "A",
          "start": 8788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_001197104.1:c.8766A>C",
        "LRG_613t1:c.8766A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184033.1:p.Glu2922Asp",
        "hgvsWellDefined": "NP_001184033.1:p.Glu2922Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829634121",
      "coordinates": [
        {
          "allele": "C",
          "end": 8780,
          "referenceAllele": "A",
          "start": 8779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_005933.3:c.8757A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005924.2:p.Glu2919Asp",
        "hgvsWellDefined": "NP_005924.2:p.Glu2919Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6264,
          "referenceAllele": "A",
          "start": 6263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_006718839.2:c.6249A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718902.2:p.Glu2083Asp",
        "hgvsWellDefined": "XP_006718902.2:p.Glu2083Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8880,
          "referenceAllele": "A",
          "start": 8879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542829.1:c.8865A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541131.1:p.Glu2955Asp",
        "hgvsWellDefined": "XP_011541131.1:p.Glu2955Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109758"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8877,
          "referenceAllele": "A",
          "start": 8876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542830.1:c.8862A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541132.1:p.Glu2954Asp",
        "hgvsWellDefined": "XP_011541132.1:p.Glu2954Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8871,
          "referenceAllele": "A",
          "start": 8870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542831.1:c.8856A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541133.1:p.Glu2952Asp",
        "hgvsWellDefined": "XP_011541133.1:p.Glu2952Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6687,
          "referenceAllele": "A",
          "start": 6686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542832.1:c.6672A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541134.1:p.Glu2224Asp",
        "hgvsWellDefined": "XP_011541134.1:p.Glu2224Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6363,
          "referenceAllele": "A",
          "start": 6362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542833.1:c.6348A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541135.1:p.Glu2116Asp",
        "hgvsWellDefined": "XP_011541135.1:p.Glu2116Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6264,
          "referenceAllele": "A",
          "start": 6263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_006718839.3:c.6249A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718902.2:p.Glu2083Asp",
        "hgvsWellDefined": "XP_006718902.2:p.Glu2083Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8880,
          "referenceAllele": "A",
          "start": 8879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542829.2:c.8865A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541131.1:p.Glu2955Asp",
        "hgvsWellDefined": "XP_011541131.1:p.Glu2955Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8877,
          "referenceAllele": "A",
          "start": 8876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542830.2:c.8862A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541132.1:p.Glu2954Asp",
        "hgvsWellDefined": "XP_011541132.1:p.Glu2954Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8871,
          "referenceAllele": "A",
          "start": 8870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542831.2:c.8856A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541133.1:p.Glu2952Asp",
        "hgvsWellDefined": "XP_011541133.1:p.Glu2952Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6363,
          "referenceAllele": "A",
          "start": 6362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542833.2:c.6348A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541135.1:p.Glu2116Asp",
        "hgvsWellDefined": "XP_011541135.1:p.Glu2116Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580171533",
      "coordinates": [
        {
          "allele": "C",
          "end": 8787,
          "referenceAllele": "A",
          "start": 8786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_001197104.2:c.8766A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184033.1:p.Glu2922Asp",
        "hgvsWellDefined": "NP_001184033.1:p.Glu2922Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534358.8:c.8766A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001197104.2:c.8766A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436786.2:p.Glu2922Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001184033.1:p.Glu2922Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829634121",
      "coordinates": [
        {
          "allele": "C",
          "end": 8778,
          "referenceAllele": "A",
          "start": 8777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_005933.4:c.8757A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005924.2:p.Glu2919Asp",
        "hgvsWellDefined": "NP_005924.2:p.Glu2919Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696566"
    }
  ],
  "type": "nucleotide"
}