{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA271648",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168947[alleleid]",
        "alleleId": 168947,
        "preferredName": "NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158776",
        "RCV": [
          "RCV000146220"
        ],
        "variationId": 158776
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49435757G>T?assembly=hg19",
        "id": "chr12:g.49435757G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49041974G>T?assembly=hg38",
        "id": "chr12:g.49041974G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/556669370",
        "rs": 556669370
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 49041974,
          "referenceAllele": "G",
          "start": 49041973
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49041974G>T",
        "CM000674.2:g.49041974G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 49435757,
          "referenceAllele": "G",
          "start": 49435756
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49435757G>T",
        "CM000674.1:g.49435757G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 47722024,
          "referenceAllele": "G",
          "start": 47722023
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47722024G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18351,
          "referenceAllele": "C",
          "start": 18350
        }
      ],
      "hgvs": [
        "NG_027827.1:g.18351C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000650290.2:c.917C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7345,
          "referenceAllele": "C",
          "start": 7344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.6126C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Cys2042Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6135,
          "referenceAllele": "C",
          "start": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.6135C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Cys2045Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689060.1:c.238C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689944.1:c.238C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6123,
          "referenceAllele": "C",
          "start": 6122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.6123C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Cys2041Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7345,
          "referenceAllele": "C",
          "start": 7344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.6126C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Cys2042Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.6126C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.6126C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Cys2042Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Cys2042Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6126,
          "referenceAllele": "C",
          "start": 6125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.6126C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Cys2042Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6126,
          "referenceAllele": "C",
          "start": 6125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.6126C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Cys2042Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7420,
          "referenceAllele": "C",
          "start": 7419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.6126C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Cys2042Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7429,
          "referenceAllele": "C",
          "start": 7428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.6135C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Cys2045Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7416,
          "referenceAllele": "C",
          "start": 7415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.6123C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Cys2041Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7436,
          "referenceAllele": "C",
          "start": 7435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.6135C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Cys2045Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7433,
          "referenceAllele": "C",
          "start": 7432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.6132C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Cys2044Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7426,
          "referenceAllele": "C",
          "start": 7425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.6126C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Cys2042Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7423,
          "referenceAllele": "C",
          "start": 7422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.6123C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Cys2041Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7416,
          "referenceAllele": "C",
          "start": 7415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.6114C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Cys2038Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7439,
          "referenceAllele": "C",
          "start": 7438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.6135C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Cys2045Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7436,
          "referenceAllele": "C",
          "start": 7435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.6135C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Cys2045Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8455,
          "referenceAllele": "C",
          "start": 8454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.8455C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7405,
          "referenceAllele": "C",
          "start": 7404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.6126C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Cys2042Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7415,
          "referenceAllele": "C",
          "start": 7414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.6135C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Cys2045Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7402,
          "referenceAllele": "C",
          "start": 7401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.6123C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Cys2041Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7417,
          "referenceAllele": "C",
          "start": 7416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.6135C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Cys2045Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7414,
          "referenceAllele": "C",
          "start": 7413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.6132C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Cys2044Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7408,
          "referenceAllele": "C",
          "start": 7407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.6126C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Cys2042Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7405,
          "referenceAllele": "C",
          "start": 7404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.6123C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Cys2041Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7397,
          "referenceAllele": "C",
          "start": 7396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.6114C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Cys2038Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7417,
          "referenceAllele": "C",
          "start": 7416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.6135C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Cys2045Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7444,
          "referenceAllele": "C",
          "start": 7443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.7444C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7345,
          "referenceAllele": "C",
          "start": 7344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.6126C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Cys2042Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.6126C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.6126C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Cys2042Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Cys2042Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}