{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6547520",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274276[alleleid]",
        "alleleId": 274276,
        "preferredName": "NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290039",
        "RCV": [
          "RCV000259370",
          "RCV001083606",
          "RCV004543133"
        ],
        "variationId": 290039
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-49437153-A-G",
        "id": "12-49437153-A-G",
        "variant": "12:49437153 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49437153A>G?assembly=hg19",
        "id": "chr12:g.49437153A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49043370A>G?assembly=hg38",
        "id": "chr12:g.49043370A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137955659",
        "rs": 137955659
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49437153-A-G?dataset=gnomad_r2_1",
        "id": "12-49437153-A-G",
        "variant": "12:49437153 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49043370-A-G?dataset=gnomad_r3",
        "id": "12-49043370-A-G",
        "variant": "12:49043370 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49043370-A-G?dataset=gnomad_r4",
        "id": "12-49043370-A-G",
        "variant": "12:49043370 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 49043370,
          "referenceAllele": "A",
          "start": 49043369
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49043370A>G",
        "CM000674.2:g.49043370A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 49437153,
          "referenceAllele": "A",
          "start": 49437152
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49437153A>G",
        "CM000674.1:g.49437153A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 47723420,
          "referenceAllele": "A",
          "start": 47723419
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47723420A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16955,
          "referenceAllele": "T",
          "start": 16954
        }
      ],
      "hgvs": [
        "NG_027827.1:g.16955T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "referenceAllele": "T",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000650290.2:c.338T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6745,
          "referenceAllele": "T",
          "start": 6744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.5526T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Asp1842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5535,
          "referenceAllele": "T",
          "start": 5534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.5535T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Asp1845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "referenceAllele": "T",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000688095.1:c.1475T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510007.1:n.1475T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5523,
          "referenceAllele": "T",
          "start": 5522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.5523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Asp1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6745,
          "referenceAllele": "T",
          "start": 6744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.5526T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Asp1842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.5526T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.5526T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Asp1842="
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Asp1842="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5526,
          "referenceAllele": "T",
          "start": 5525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.5526T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Asp1842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "referenceAllele": "T",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000550356.1:n.329T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462455",
      "coordinates": [
        {
          "allele": "C",
          "end": 5526,
          "referenceAllele": "T",
          "start": 5525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.5526T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Asp1842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6820,
          "referenceAllele": "T",
          "start": 6819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.5526T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Asp1842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6829,
          "referenceAllele": "T",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.5535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Asp1845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6816,
          "referenceAllele": "T",
          "start": 6815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.5523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Asp1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6836,
          "referenceAllele": "T",
          "start": 6835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.5535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Asp1845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6833,
          "referenceAllele": "T",
          "start": 6832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.5532T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Asp1844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6826,
          "referenceAllele": "T",
          "start": 6825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.5526T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Asp1842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6823,
          "referenceAllele": "T",
          "start": 6822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.5523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Asp1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6837,
          "referenceAllele": "T",
          "start": 6836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.5535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Asp1845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6839,
          "referenceAllele": "T",
          "start": 6838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.5535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Asp1845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6836,
          "referenceAllele": "T",
          "start": 6835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.5535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Asp1845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7855,
          "referenceAllele": "T",
          "start": 7854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.7855T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6805,
          "referenceAllele": "T",
          "start": 6804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.5526T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Asp1842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6815,
          "referenceAllele": "T",
          "start": 6814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.5535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Asp1845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6802,
          "referenceAllele": "T",
          "start": 6801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.5523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Asp1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6817,
          "referenceAllele": "T",
          "start": 6816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.5535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Asp1845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6814,
          "referenceAllele": "T",
          "start": 6813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.5532T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Asp1844="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6808,
          "referenceAllele": "T",
          "start": 6807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.5526T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Asp1842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6805,
          "referenceAllele": "T",
          "start": 6804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.5523T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Asp1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6818,
          "referenceAllele": "T",
          "start": 6817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.5535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Asp1845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6817,
          "referenceAllele": "T",
          "start": 6816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.5535T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Asp1845="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6844,
          "referenceAllele": "T",
          "start": 6843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.6844T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462455",
      "coordinates": [
        {
          "allele": "C",
          "end": 6745,
          "referenceAllele": "T",
          "start": 6744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.5526T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Asp1842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.5526T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.5526T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Asp1842="
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Asp1842="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}