{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6547173",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1328835[alleleid]",
        "alleleId": 1328835,
        "preferredName": "NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1337826",
        "RCV": [
          "RCV001822424",
          "RCV001869753",
          "RCV004542132"
        ],
        "variationId": 1337826
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-49434732-G-A",
        "id": "12-49434732-G-A",
        "variant": "12:49434732 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49434732G>A?assembly=hg19",
        "id": "chr12:g.49434732G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49040949G>A?assembly=hg38",
        "id": "chr12:g.49040949G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767236217",
        "rs": 767236217
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49434732-G-A?dataset=gnomad_r2_1",
        "id": "12-49434732-G-A",
        "variant": "12:49434732 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49040949-G-A?dataset=gnomad_r3",
        "id": "12-49040949-G-A",
        "variant": "12:49040949 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49040949-G-A?dataset=gnomad_r4",
        "id": "12-49040949-G-A",
        "variant": "12:49040949 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49040949,
          "referenceAllele": "G",
          "start": 49040948
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49040949G>A",
        "CM000674.2:g.49040949G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49434732,
          "referenceAllele": "G",
          "start": 49434731
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49434732G>A",
        "CM000674.1:g.49434732G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 47720999,
          "referenceAllele": "G",
          "start": 47720998
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47720999G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19376,
          "referenceAllele": "C",
          "start": 19375
        }
      ],
      "hgvs": [
        "NG_027827.1:g.19376C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8040,
          "referenceAllele": "C",
          "start": 8039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.6821C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Ser2274Leu",
        "hgvsWellDefined": "ENSP00000506726.1:p.Ser2274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6830,
          "referenceAllele": "C",
          "start": 6829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.6830C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Ser2277Leu",
        "hgvsWellDefined": "ENSP00000509386.1:p.Ser2277Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689060.1:c.840C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689143.1:c.494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509839.1:p.Ser165Leu",
        "hgvsWellDefined": "ENSP00000509839.1:p.Ser165Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 930,
          "referenceAllele": "C",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689944.1:c.930C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6818,
          "referenceAllele": "C",
          "start": 6817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.6818C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Ser2273Leu",
        "hgvsWellDefined": "ENSP00000509666.1:p.Ser2273Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8040,
          "referenceAllele": "C",
          "start": 8039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.6821C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Ser2274Leu",
        "hgvsWellDefined": "ENSP00000301067.7:p.Ser2274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.6821C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.6821C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ser2274Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ser2274Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6821,
          "referenceAllele": "C",
          "start": 6820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.6821C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Ser2274Leu",
        "hgvsWellDefined": "ENSP00000301067.7:p.Ser2274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573082901",
      "coordinates": [
        {
          "allele": "T",
          "end": 6821,
          "referenceAllele": "C",
          "start": 6820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.6821C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ser2274Leu",
        "hgvsWellDefined": "NP_003473.3:p.Ser2274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8115,
          "referenceAllele": "C",
          "start": 8114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.6821C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Ser2274Leu",
        "hgvsWellDefined": "XP_005269219.1:p.Ser2274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8124,
          "referenceAllele": "C",
          "start": 8123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.6830C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Ser2277Leu",
        "hgvsWellDefined": "XP_006719677.1:p.Ser2277Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8111,
          "referenceAllele": "C",
          "start": 8110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.6818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Ser2273Leu",
        "hgvsWellDefined": "XP_006719679.1:p.Ser2273Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8131,
          "referenceAllele": "C",
          "start": 8130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.6830C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Ser2277Leu",
        "hgvsWellDefined": "XP_011537072.1:p.Ser2277Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8128,
          "referenceAllele": "C",
          "start": 8127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.6827C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Ser2276Leu",
        "hgvsWellDefined": "XP_011537073.1:p.Ser2276Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8121,
          "referenceAllele": "C",
          "start": 8120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.6821C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Ser2274Leu",
        "hgvsWellDefined": "XP_011537074.1:p.Ser2274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8118,
          "referenceAllele": "C",
          "start": 8117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.6818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Ser2273Leu",
        "hgvsWellDefined": "XP_011537075.1:p.Ser2273Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8111,
          "referenceAllele": "C",
          "start": 8110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.6809C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Ser2270Leu",
        "hgvsWellDefined": "XP_011537076.1:p.Ser2270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8134,
          "referenceAllele": "C",
          "start": 8133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.6830C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Ser2277Leu",
        "hgvsWellDefined": "XP_011537077.1:p.Ser2277Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8038,
          "referenceAllele": "C",
          "start": 8037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.6737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Ser2246Leu",
        "hgvsWellDefined": "XP_011537078.1:p.Ser2246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9150,
          "referenceAllele": "C",
          "start": 9149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.9150C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8100,
          "referenceAllele": "C",
          "start": 8099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.6821C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Ser2274Leu",
        "hgvsWellDefined": "XP_005269219.1:p.Ser2274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8110,
          "referenceAllele": "C",
          "start": 8109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.6830C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Ser2277Leu",
        "hgvsWellDefined": "XP_006719677.1:p.Ser2277Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8097,
          "referenceAllele": "C",
          "start": 8096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.6818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Ser2273Leu",
        "hgvsWellDefined": "XP_006719679.1:p.Ser2273Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8112,
          "referenceAllele": "C",
          "start": 8111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.6830C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Ser2277Leu",
        "hgvsWellDefined": "XP_011537072.1:p.Ser2277Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8109,
          "referenceAllele": "C",
          "start": 8108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.6827C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Ser2276Leu",
        "hgvsWellDefined": "XP_011537073.1:p.Ser2276Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8103,
          "referenceAllele": "C",
          "start": 8102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.6821C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Ser2274Leu",
        "hgvsWellDefined": "XP_011537074.1:p.Ser2274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8100,
          "referenceAllele": "C",
          "start": 8099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.6818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Ser2273Leu",
        "hgvsWellDefined": "XP_011537075.1:p.Ser2273Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8092,
          "referenceAllele": "C",
          "start": 8091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.6809C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Ser2270Leu",
        "hgvsWellDefined": "XP_011537076.1:p.Ser2270Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8019,
          "referenceAllele": "C",
          "start": 8018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.6737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Ser2246Leu",
        "hgvsWellDefined": "XP_011537078.1:p.Ser2246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8139,
          "referenceAllele": "C",
          "start": 8138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.8139C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573082901",
      "coordinates": [
        {
          "allele": "T",
          "end": 8040,
          "referenceAllele": "C",
          "start": 8039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.6821C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ser2274Leu",
        "hgvsWellDefined": "NP_003473.3:p.Ser2274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.6821C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.6821C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ser2274Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ser2274Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}