{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384746773",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1861971[alleleid]",
        "alleleId": 1861971,
        "preferredName": "NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1804956",
        "RCV": [
          "RCV002471374",
          "RCV002571452"
        ],
        "variationId": 1804956
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49433739T>C?assembly=hg19",
        "id": "chr12:g.49433739T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49039956T>C?assembly=hg38",
        "id": "chr12:g.49039956T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1324342513",
        "rs": 1324342513
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49433739-T-C?dataset=gnomad_r2_1",
        "id": "12-49433739-T-C",
        "variant": "12:49433739 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49039956-T-C?dataset=gnomad_r4",
        "id": "12-49039956-T-C",
        "variant": "12:49039956 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 49039956,
          "referenceAllele": "T",
          "start": 49039955
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49039956T>C",
        "CM000674.2:g.49039956T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 49433739,
          "referenceAllele": "T",
          "start": 49433738
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49433739T>C",
        "CM000674.1:g.49433739T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 47720006,
          "referenceAllele": "T",
          "start": 47720005
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47720006T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20369,
          "referenceAllele": "A",
          "start": 20368
        }
      ],
      "hgvs": [
        "NG_027827.1:g.20369A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9033,
          "referenceAllele": "A",
          "start": 9032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.7814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Tyr2605Cys",
        "hgvsWellDefined": "ENSP00000506726.1:p.Tyr2605Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7823,
          "referenceAllele": "A",
          "start": 7822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.7823A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Tyr2608Cys",
        "hgvsWellDefined": "ENSP00000509386.1:p.Tyr2608Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1833,
          "referenceAllele": "A",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689060.1:c.1833A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1487,
          "referenceAllele": "A",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689143.1:c.1487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509839.1:p.Tyr496Cys",
        "hgvsWellDefined": "ENSP00000509839.1:p.Tyr496Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1923,
          "referenceAllele": "A",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689944.1:c.1923A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7811,
          "referenceAllele": "A",
          "start": 7810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.7811A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Tyr2604Cys",
        "hgvsWellDefined": "ENSP00000509666.1:p.Tyr2604Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9033,
          "referenceAllele": "A",
          "start": 9032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.7814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Tyr2605Cys",
        "hgvsWellDefined": "ENSP00000301067.7:p.Tyr2605Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.7814A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.7814A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Tyr2605Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Tyr2605Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7814,
          "referenceAllele": "A",
          "start": 7813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.7814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Tyr2605Cys",
        "hgvsWellDefined": "ENSP00000301067.7:p.Tyr2605Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580284162",
      "coordinates": [
        {
          "allele": "G",
          "end": 7814,
          "referenceAllele": "A",
          "start": 7813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.7814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Tyr2605Cys",
        "hgvsWellDefined": "NP_003473.3:p.Tyr2605Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9108,
          "referenceAllele": "A",
          "start": 9107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.7814A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Tyr2605Cys",
        "hgvsWellDefined": "XP_005269219.1:p.Tyr2605Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9117,
          "referenceAllele": "A",
          "start": 9116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.7823A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Tyr2608Cys",
        "hgvsWellDefined": "XP_006719677.1:p.Tyr2608Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9104,
          "referenceAllele": "A",
          "start": 9103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.7811A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Tyr2604Cys",
        "hgvsWellDefined": "XP_006719679.1:p.Tyr2604Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9124,
          "referenceAllele": "A",
          "start": 9123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.7823A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Tyr2608Cys",
        "hgvsWellDefined": "XP_011537072.1:p.Tyr2608Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9121,
          "referenceAllele": "A",
          "start": 9120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.7820A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Tyr2607Cys",
        "hgvsWellDefined": "XP_011537073.1:p.Tyr2607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9114,
          "referenceAllele": "A",
          "start": 9113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.7814A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Tyr2605Cys",
        "hgvsWellDefined": "XP_011537074.1:p.Tyr2605Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9111,
          "referenceAllele": "A",
          "start": 9110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.7811A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Tyr2604Cys",
        "hgvsWellDefined": "XP_011537075.1:p.Tyr2604Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9104,
          "referenceAllele": "A",
          "start": 9103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.7802A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Tyr2601Cys",
        "hgvsWellDefined": "XP_011537076.1:p.Tyr2601Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9127,
          "referenceAllele": "A",
          "start": 9126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.7823A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Tyr2608Cys",
        "hgvsWellDefined": "XP_011537077.1:p.Tyr2608Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9031,
          "referenceAllele": "A",
          "start": 9030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.7730A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Tyr2577Cys",
        "hgvsWellDefined": "XP_011537078.1:p.Tyr2577Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10143,
          "referenceAllele": "A",
          "start": 10142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.10143A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9093,
          "referenceAllele": "A",
          "start": 9092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.7814A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Tyr2605Cys",
        "hgvsWellDefined": "XP_005269219.1:p.Tyr2605Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9103,
          "referenceAllele": "A",
          "start": 9102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.7823A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Tyr2608Cys",
        "hgvsWellDefined": "XP_006719677.1:p.Tyr2608Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9090,
          "referenceAllele": "A",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.7811A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Tyr2604Cys",
        "hgvsWellDefined": "XP_006719679.1:p.Tyr2604Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9105,
          "referenceAllele": "A",
          "start": 9104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.7823A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Tyr2608Cys",
        "hgvsWellDefined": "XP_011537072.1:p.Tyr2608Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9102,
          "referenceAllele": "A",
          "start": 9101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.7820A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Tyr2607Cys",
        "hgvsWellDefined": "XP_011537073.1:p.Tyr2607Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9096,
          "referenceAllele": "A",
          "start": 9095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.7814A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Tyr2605Cys",
        "hgvsWellDefined": "XP_011537074.1:p.Tyr2605Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9093,
          "referenceAllele": "A",
          "start": 9092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.7811A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Tyr2604Cys",
        "hgvsWellDefined": "XP_011537075.1:p.Tyr2604Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9085,
          "referenceAllele": "A",
          "start": 9084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.7802A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Tyr2601Cys",
        "hgvsWellDefined": "XP_011537076.1:p.Tyr2601Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9012,
          "referenceAllele": "A",
          "start": 9011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.7730A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Tyr2577Cys",
        "hgvsWellDefined": "XP_011537078.1:p.Tyr2577Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9132,
          "referenceAllele": "A",
          "start": 9131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.9132A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580284162",
      "coordinates": [
        {
          "allele": "G",
          "end": 9033,
          "referenceAllele": "A",
          "start": 9032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.7814A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Tyr2605Cys",
        "hgvsWellDefined": "NP_003473.3:p.Tyr2605Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.7814A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.7814A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Tyr2605Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Tyr2605Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}