{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA172400",
  "communityStandardTitle": [
    "NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168859[alleleid]",
        "alleleId": 168859,
        "preferredName": "NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158709",
        "RCV": [
          "RCV000146145",
          "RCV001269710"
        ],
        "variationId": 158709
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118374702C>T?assembly=hg19",
        "id": "chr11:g.118374702C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118503987C>T?assembly=hg38",
        "id": "chr11:g.118503987C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783680",
        "rs": 587783680
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118503987,
          "referenceAllele": "C",
          "start": 118503986
        }
      ],
      "hgvs": [
        "NC_000011.10:g.118503987C>T",
        "CM000673.2:g.118503987C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118374702,
          "referenceAllele": "C",
          "start": 118374701
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118374702C>T",
        "CM000673.1:g.118374702C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 117879912,
          "referenceAllele": "C",
          "start": 117879911
        }
      ],
      "hgvs": [
        "NC_000011.8:g.117879912C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72498,
          "referenceAllele": "C",
          "start": 72497
        }
      ],
      "hgvs": [
        "NG_027813.1:g.72498C>T",
        "LRG_613:g.72498C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003978"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8215,
          "referenceAllele": "C",
          "start": 8214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000531904.7:c.8194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432391.3:p.Arg2732Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8241,
          "referenceAllele": "C",
          "start": 8240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000710560.1:c.8185C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518343.1:p.Arg2729Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2134,
          "referenceAllele": "C",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000649878.2:c.2134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497891.2:p.Arg712Ter",
        "hgvsWellDefined": "ENSP00000497891.2:p.Arg712_Lys1633delinsLeuAlaSerHisAsnLeuPheArgGluGluGluGlnCysAspLeuProLysIleSerGlnLeuAspGlyValAspAspGlyThrGluSerAspThrSerValThrAlaThrThrArgLysSerSerGlnIleProLysArgAsnGlyLysGluAsnGlyThrGluAsnLeuLysIleAspArgProGluAspAlaGlyGluLysGluHisValThrLysSerSerValGlyHisLysAsnGluProLysMetAspAsnCysHisSerValSerArgValLysThrGlnGlyGlnAspSerLeuGluAlaGlnLeuSerSerLeuGluSerSerArgArgValHisThrSerThrProSerAspLysAsnLeuLeuAspThrTyrAsnThrGluLeuLeuLysSerAspSerAspAsnAsnAsnSerAspAspCysGlyAsnIleLeuProSerAspIleMetAspPheValLeuLysAsnThrProSerMetGlnAlaLeuGlyGluSerProGluSerSerSerSerGluLeuLeuAsnLeuGlyGluGlyLeuGlyLeuAspSerAsnArgGluLysAspMetGlyLeuPheGluValPheSerGlnGlnLeuProThrThrGluProValAspSerSerValSerSerSerIleSerAlaGluGluGlnPheGluLeuProLeuGluLeuProSerAspLeuSerValLeuThrThrArgSerProThrValProSerGlnAsnProSerArgLeuAlaValIleSerAspSerGlyGluLysArgValThrIleThrGluLysSerValAlaSerSerGluSerAspProAlaLeuLeuSerProGlyValAspProThrProGluGlyHisMetThrProAspHisPheIleGlnGlyHisMetAspAlaAspHisIleSerSerProProCysGlySerValGluGlnGlyHisGlyAsnAsnGlnAspLeuThrArgAsnSerSerThrProGlyLeuGlnValProValSerProThrValProIleGlnAsnGlnLysTyrValProAsnSerThrAspSerProGlyProSerGlnIleSerAsnAlaAlaValGlnThrThrProProHisLeuLysProAlaThrGluLysLeuIleValValAsnGlnAsnMetGlnProLeuTyrValLeuGlnThrLeuProAsnGlyValThrGlnLysIleGlnLeuThrSerSerValSerSerThrProSerValMetGluThrAsnThrSerValLeuGlyProMetGlyGlyGlyLeuThrLeuThrThrGlyLeuAsnProSerLeuProThrSerGlnSerLeuPheProSerAlaSerLysGlyLeuLeuProMetSerHisHisGlnHisLeuHisSerPheProAlaAlaThrGlnSerSerPheProProAsnIleSerAsnProProSerGlyLeuLeuIleGlyValGlnProProProAspProGlnLeuLeuValSerGluSerSerGlnArgThrAspLeuSerThrThrValAlaThrProSerSerGlyLeuLysLysArgProIleSerArgLeuGlnThrArgLysAsnLysLysLeuAlaProSerSerThrProSerAsnIleAlaProSerAspValValSerAsnMetThrLeuIleAsnPheThrProSerGlnLeuProAsnHisProSerLeuLeuAspLeuGlySerLeuAsnThrSerSerHisArgThrValProAsnIleIleLysArgSerLysSerSerIleMetTyrPheGluProAlaProLeuLeuProGlnSerValGlyGlyThrAlaAlaThrAlaAlaGlyThrSerThrIleSerGlnAspThrSerHisLeuThrSerGlySerValSerGlyLeuAlaSerSerSerSerValLeuAsnValValSerMetGlnThrThrThrThrProThrSerSerAlaSerValProGlyHisValThrLeuThrAsnProArgLeuLeuGlyThrProAspIleGlySerIleSerAsnLeuLeuIleLysAlaSerGlnGlnSerLeuGlyIleGlnAspGlnProValAlaLeuProProSerSerGlyMetPheProGlnLeuGlyThrSerGlnThrProSerThrAlaAlaIleThrAlaAlaSerSerIleCysValLeuProSerThrGlnThrThrGlyIleThrAlaAlaSerProSerGlyGluAlaAspGluHisTyrGlnLeuGlnHisValAsnGlnLeuLeuAlaSerLysThrGlyIleHisSerSerGlnArgAspLeuAspSerAlaSerGlyProGlnValSerAsnPheThrGlnThrValAspAlaProAsnSerMetGlyLeuGluGlnAsnLysAlaLeuSerSerAlaValGlnAlaSerProThrSerProGlyGlySerProSerSerProSerSerGlyGlnArgSerAlaSerProSerValProGlyProThrLysProLysProLysThrLysArgPheGlnLeuProLeuAspLysGlyAsnGlyLysLysHisLysValSerHisLeuArgThrSerSerSerGluAlaHisIleProAspGlnGluThrThrSerLeuThrSerGlyThrGlyThrProGlyAlaGluAlaGluGlnGlnAspThrAlaSerValGluGlnSerSerGlnLysGluCysGlyGlnProAlaGlySerGlyAspProLysSerSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2134,
          "referenceAllele": "C",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000685397.1:c.2134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509586.1:p.Arg712Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2134,
          "referenceAllele": "C",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000686370.1:c.2134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509179.1:p.Arg712Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2392,
          "referenceAllele": "C",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000689424.1:c.2392C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509852.1:p.Arg798Ter",
        "hgvsWellDefined": "ENSP00000509852.1:p.Arg798_Gly1684del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8175,
          "referenceAllele": "C",
          "start": 8174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000691053.1:c.8167C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509168.1:p.Arg2723Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8109,
          "referenceAllele": "C",
          "start": 8108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000389506.10:c.8086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374157.5:p.Arg2696Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7437,
          "referenceAllele": "C",
          "start": 7436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000528278.2:n.7437C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8116,
          "referenceAllele": "C",
          "start": 8115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000534358.8:c.8095C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436786.2:p.Arg2699Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534358.8:c.8095C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001197104.2:c.8095C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436786.2:p.Arg2699Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001184033.1:p.Arg2699Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7972,
          "referenceAllele": "C",
          "start": 7971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000649699.1:c.7972C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496927.1:p.Arg2658Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8086,
          "referenceAllele": "C",
          "start": 8085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000389506.9:c.8086C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374157.5:p.Arg2696Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8118,
          "referenceAllele": "C",
          "start": 8117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000534358.5:c.8095C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436786.1:p.Arg2699Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8118,
          "referenceAllele": "C",
          "start": 8117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_001197104.1:c.8095C>T",
        "LRG_613t1:c.8095C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184033.1:p.Arg2699Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8109,
          "referenceAllele": "C",
          "start": 8108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_005933.3:c.8086C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005924.2:p.Arg2696Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5593,
          "referenceAllele": "C",
          "start": 5592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_006718839.2:c.5578C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718902.2:p.Arg1860Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8209,
          "referenceAllele": "C",
          "start": 8208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542829.1:c.8194C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541131.1:p.Arg2732Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8206,
          "referenceAllele": "C",
          "start": 8205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542830.1:c.8191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541132.1:p.Arg2731Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8200,
          "referenceAllele": "C",
          "start": 8199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542831.1:c.8185C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541133.1:p.Arg2729Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6016,
          "referenceAllele": "C",
          "start": 6015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542832.1:c.6001C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541134.1:p.Arg2001Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5692,
          "referenceAllele": "C",
          "start": 5691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542833.1:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541135.1:p.Arg1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5593,
          "referenceAllele": "C",
          "start": 5592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_006718839.3:c.5578C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718902.2:p.Arg1860Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8209,
          "referenceAllele": "C",
          "start": 8208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542829.2:c.8194C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541131.1:p.Arg2732Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8206,
          "referenceAllele": "C",
          "start": 8205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542830.2:c.8191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541132.1:p.Arg2731Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8200,
          "referenceAllele": "C",
          "start": 8199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542831.2:c.8185C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541133.1:p.Arg2729Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5692,
          "referenceAllele": "C",
          "start": 5691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542833.2:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541135.1:p.Arg1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8116,
          "referenceAllele": "C",
          "start": 8115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_001197104.2:c.8095C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184033.1:p.Arg2699Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534358.8:c.8095C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001197104.2:c.8095C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436786.2:p.Arg2699Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001184033.1:p.Arg2699Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8107,
          "referenceAllele": "C",
          "start": 8106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_005933.4:c.8086C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005924.2:p.Arg2696Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696566"
    }
  ],
  "type": "nucleotide"
}