{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6546116",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1609350[alleleid]",
        "alleleId": 1609350,
        "preferredName": "NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1599268",
        "RCV": [
          "RCV002115772",
          "RCV003447618",
          "RCV004531405"
        ],
        "variationId": 1599268
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-49425626-G-A",
        "id": "12-49425626-G-A",
        "variant": "12:49425626 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49425626G>A?assembly=hg19",
        "id": "chr12:g.49425626G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49031843G>A?assembly=hg38",
        "id": "chr12:g.49031843G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/542331667",
        "rs": 542331667
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49425626-G-A?dataset=gnomad_r2_1",
        "id": "12-49425626-G-A",
        "variant": "12:49425626 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49031843-G-A?dataset=gnomad_r3",
        "id": "12-49031843-G-A",
        "variant": "12:49031843 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49031843-G-A?dataset=gnomad_r4",
        "id": "12-49031843-G-A",
        "variant": "12:49031843 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49031843,
          "referenceAllele": "G",
          "start": 49031842
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49031843G>A",
        "CM000674.2:g.49031843G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49425626,
          "referenceAllele": "G",
          "start": 49425625
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49425626G>A",
        "CM000674.1:g.49425626G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 47711893,
          "referenceAllele": "G",
          "start": 47711892
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47711893G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28482,
          "referenceAllele": "C",
          "start": 28481
        }
      ],
      "hgvs": [
        "NG_027827.1:g.28482C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14081,
          "referenceAllele": "C",
          "start": 14080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.12862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Arg4288Trp",
        "hgvsWellDefined": "ENSP00000506726.1:p.Arg4288Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12871,
          "referenceAllele": "C",
          "start": 12870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.12871C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Arg4291Trp",
        "hgvsWellDefined": "ENSP00000509386.1:p.Arg4291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1752,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "C",
          "start": 1752,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685554.1:c.1753-531C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508640.1:n.1753-531C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12859,
          "referenceAllele": "C",
          "start": 12858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.12859C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Arg4287Trp",
        "hgvsWellDefined": "ENSP00000509666.1:p.Arg4287Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4341,
          "referenceAllele": "C",
          "start": 4340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692841.1:c.4341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508711.1:n.4341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14081,
          "referenceAllele": "C",
          "start": 14080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.12862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Arg4288Trp",
        "hgvsWellDefined": "ENSP00000301067.7:p.Arg4288Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.12862C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.12862C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg4288Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg4288Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12862,
          "referenceAllele": "C",
          "start": 12861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.12862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Arg4288Trp",
        "hgvsWellDefined": "ENSP00000301067.7:p.Arg4288Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573231565",
      "coordinates": [
        {
          "allele": "T",
          "end": 12862,
          "referenceAllele": "C",
          "start": 12861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.12862C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg4288Trp",
        "hgvsWellDefined": "NP_003473.3:p.Arg4288Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14156,
          "referenceAllele": "C",
          "start": 14155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.12862C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg4288Trp",
        "hgvsWellDefined": "XP_005269219.1:p.Arg4288Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14165,
          "referenceAllele": "C",
          "start": 14164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.12871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg4291Trp",
        "hgvsWellDefined": "XP_006719677.1:p.Arg4291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14152,
          "referenceAllele": "C",
          "start": 14151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.12859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg4287Trp",
        "hgvsWellDefined": "XP_006719679.1:p.Arg4287Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14172,
          "referenceAllele": "C",
          "start": 14171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.12871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg4291Trp",
        "hgvsWellDefined": "XP_011537072.1:p.Arg4291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14169,
          "referenceAllele": "C",
          "start": 14168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.12868C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg4290Trp",
        "hgvsWellDefined": "XP_011537073.1:p.Arg4290Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14162,
          "referenceAllele": "C",
          "start": 14161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.12862C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg4288Trp",
        "hgvsWellDefined": "XP_011537074.1:p.Arg4288Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14159,
          "referenceAllele": "C",
          "start": 14158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.12859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg4287Trp",
        "hgvsWellDefined": "XP_011537075.1:p.Arg4287Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14152,
          "referenceAllele": "C",
          "start": 14151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.12850C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Arg4284Trp",
        "hgvsWellDefined": "XP_011537076.1:p.Arg4284Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14175,
          "referenceAllele": "C",
          "start": 14174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.12871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Arg4291Trp",
        "hgvsWellDefined": "XP_011537077.1:p.Arg4291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14079,
          "referenceAllele": "C",
          "start": 14078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.12778C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg4260Trp",
        "hgvsWellDefined": "XP_011537078.1:p.Arg4260Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15191,
          "referenceAllele": "C",
          "start": 15190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.15191C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14141,
          "referenceAllele": "C",
          "start": 14140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.12862C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg4288Trp",
        "hgvsWellDefined": "XP_005269219.1:p.Arg4288Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14151,
          "referenceAllele": "C",
          "start": 14150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.12871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg4291Trp",
        "hgvsWellDefined": "XP_006719677.1:p.Arg4291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14138,
          "referenceAllele": "C",
          "start": 14137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.12859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg4287Trp",
        "hgvsWellDefined": "XP_006719679.1:p.Arg4287Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14153,
          "referenceAllele": "C",
          "start": 14152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.12871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg4291Trp",
        "hgvsWellDefined": "XP_011537072.1:p.Arg4291Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14150,
          "referenceAllele": "C",
          "start": 14149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.12868C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg4290Trp",
        "hgvsWellDefined": "XP_011537073.1:p.Arg4290Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14144,
          "referenceAllele": "C",
          "start": 14143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.12862C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg4288Trp",
        "hgvsWellDefined": "XP_011537074.1:p.Arg4288Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14141,
          "referenceAllele": "C",
          "start": 14140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.12859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg4287Trp",
        "hgvsWellDefined": "XP_011537075.1:p.Arg4287Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14133,
          "referenceAllele": "C",
          "start": 14132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.12850C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Arg4284Trp",
        "hgvsWellDefined": "XP_011537076.1:p.Arg4284Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14060,
          "referenceAllele": "C",
          "start": 14059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.12778C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg4260Trp",
        "hgvsWellDefined": "XP_011537078.1:p.Arg4260Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14180,
          "referenceAllele": "C",
          "start": 14179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.14180C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573231565",
      "coordinates": [
        {
          "allele": "T",
          "end": 14081,
          "referenceAllele": "C",
          "start": 14080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.12862C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg4288Trp",
        "hgvsWellDefined": "NP_003473.3:p.Arg4288Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.12862C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.12862C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg4288Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg4288Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}