{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6547163",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=793431[alleleid]",
        "alleleId": 793431,
        "preferredName": "NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/805015",
        "RCV": [
          "RCV000992315",
          "RCV002275178",
          "RCV002549793"
        ],
        "variationId": 805015
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-49434669-G-A",
        "id": "12-49434669-G-A",
        "variant": "12:49434669 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49434669G>A?assembly=hg19",
        "id": "chr12:g.49434669G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49040886G>A?assembly=hg38",
        "id": "chr12:g.49040886G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758685548",
        "rs": 758685548
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49434669-G-A?dataset=gnomad_r2_1",
        "id": "12-49434669-G-A",
        "variant": "12:49434669 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49040886-G-A?dataset=gnomad_r3",
        "id": "12-49040886-G-A",
        "variant": "12:49040886 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49040886-G-A?dataset=gnomad_r4",
        "id": "12-49040886-G-A",
        "variant": "12:49040886 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49040886,
          "referenceAllele": "G",
          "start": 49040885
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49040886G>A",
        "CM000674.2:g.49040886G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49434669,
          "referenceAllele": "G",
          "start": 49434668
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49434669G>A",
        "CM000674.1:g.49434669G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 47720936,
          "referenceAllele": "G",
          "start": 47720935
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47720936G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19439,
          "referenceAllele": "C",
          "start": 19438
        }
      ],
      "hgvs": [
        "NG_027827.1:g.19439C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8103,
          "referenceAllele": "C",
          "start": 8102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.6884C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Ser2295Phe",
        "hgvsWellDefined": "ENSP00000506726.1:p.Ser2295Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6893,
          "referenceAllele": "C",
          "start": 6892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.6893C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Ser2298Phe",
        "hgvsWellDefined": "ENSP00000509386.1:p.Ser2298Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "referenceAllele": "C",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689060.1:c.903C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689143.1:c.557C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509839.1:p.Ser186Phe",
        "hgvsWellDefined": "ENSP00000509839.1:p.Ser186Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689944.1:c.993C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6881,
          "referenceAllele": "C",
          "start": 6880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.6881C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Ser2294Phe",
        "hgvsWellDefined": "ENSP00000509666.1:p.Ser2294Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8103,
          "referenceAllele": "C",
          "start": 8102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.6884C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Ser2295Phe",
        "hgvsWellDefined": "ENSP00000301067.7:p.Ser2295Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.6884C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.6884C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ser2295Phe"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ser2295Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6884,
          "referenceAllele": "C",
          "start": 6883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.6884C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Ser2295Phe",
        "hgvsWellDefined": "ENSP00000301067.7:p.Ser2295Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989203",
      "coordinates": [
        {
          "allele": "T",
          "end": 6884,
          "referenceAllele": "C",
          "start": 6883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.6884C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ser2295Phe",
        "hgvsWellDefined": "NP_003473.3:p.Ser2295Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8178,
          "referenceAllele": "C",
          "start": 8177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.6884C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Ser2295Phe",
        "hgvsWellDefined": "XP_005269219.1:p.Ser2295Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8187,
          "referenceAllele": "C",
          "start": 8186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.6893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Ser2298Phe",
        "hgvsWellDefined": "XP_006719677.1:p.Ser2298Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8174,
          "referenceAllele": "C",
          "start": 8173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.6881C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Ser2294Phe",
        "hgvsWellDefined": "XP_006719679.1:p.Ser2294Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8194,
          "referenceAllele": "C",
          "start": 8193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.6893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Ser2298Phe",
        "hgvsWellDefined": "XP_011537072.1:p.Ser2298Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8191,
          "referenceAllele": "C",
          "start": 8190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.6890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Ser2297Phe",
        "hgvsWellDefined": "XP_011537073.1:p.Ser2297Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8184,
          "referenceAllele": "C",
          "start": 8183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.6884C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Ser2295Phe",
        "hgvsWellDefined": "XP_011537074.1:p.Ser2295Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8181,
          "referenceAllele": "C",
          "start": 8180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.6881C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Ser2294Phe",
        "hgvsWellDefined": "XP_011537075.1:p.Ser2294Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8174,
          "referenceAllele": "C",
          "start": 8173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.6872C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Ser2291Phe",
        "hgvsWellDefined": "XP_011537076.1:p.Ser2291Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8197,
          "referenceAllele": "C",
          "start": 8196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.6893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Ser2298Phe",
        "hgvsWellDefined": "XP_011537077.1:p.Ser2298Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8101,
          "referenceAllele": "C",
          "start": 8100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.6800C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Ser2267Phe",
        "hgvsWellDefined": "XP_011537078.1:p.Ser2267Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9213,
          "referenceAllele": "C",
          "start": 9212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.9213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8163,
          "referenceAllele": "C",
          "start": 8162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.6884C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Ser2295Phe",
        "hgvsWellDefined": "XP_005269219.1:p.Ser2295Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8173,
          "referenceAllele": "C",
          "start": 8172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.6893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Ser2298Phe",
        "hgvsWellDefined": "XP_006719677.1:p.Ser2298Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8160,
          "referenceAllele": "C",
          "start": 8159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.6881C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Ser2294Phe",
        "hgvsWellDefined": "XP_006719679.1:p.Ser2294Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8175,
          "referenceAllele": "C",
          "start": 8174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.6893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Ser2298Phe",
        "hgvsWellDefined": "XP_011537072.1:p.Ser2298Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8172,
          "referenceAllele": "C",
          "start": 8171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.6890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Ser2297Phe",
        "hgvsWellDefined": "XP_011537073.1:p.Ser2297Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8166,
          "referenceAllele": "C",
          "start": 8165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.6884C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Ser2295Phe",
        "hgvsWellDefined": "XP_011537074.1:p.Ser2295Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8163,
          "referenceAllele": "C",
          "start": 8162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.6881C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Ser2294Phe",
        "hgvsWellDefined": "XP_011537075.1:p.Ser2294Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8155,
          "referenceAllele": "C",
          "start": 8154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.6872C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Ser2291Phe",
        "hgvsWellDefined": "XP_011537076.1:p.Ser2291Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8082,
          "referenceAllele": "C",
          "start": 8081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.6800C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Ser2267Phe",
        "hgvsWellDefined": "XP_011537078.1:p.Ser2267Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8202,
          "referenceAllele": "C",
          "start": 8201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.8202C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989203",
      "coordinates": [
        {
          "allele": "T",
          "end": 8103,
          "referenceAllele": "C",
          "start": 8102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.6884C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ser2295Phe",
        "hgvsWellDefined": "NP_003473.3:p.Ser2295Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.6884C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.6884C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ser2295Phe"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ser2295Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}