{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA160571",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.8006T>G (p.Met2669Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=138441[alleleid]",
        "alleleId": 138441,
        "preferredName": "NM_003482.4(KMT2D):c.8006T>G (p.Met2669Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134702",
        "RCV": [
          "RCV000121412",
          "RCV001289094",
          "RCV001498880"
        ],
        "variationId": 134702
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-49433547-A-C",
        "id": "12-49433547-A-C",
        "variant": "12:49433547 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49433547A>C?assembly=hg19",
        "id": "chr12:g.49433547A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49039764A>C?assembly=hg38",
        "id": "chr12:g.49039764A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372520829",
        "rs": 372520829
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49433547-A-C?dataset=gnomad_r2_1",
        "id": "12-49433547-A-C",
        "variant": "12:49433547 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49039764-A-C?dataset=gnomad_r3",
        "id": "12-49039764-A-C",
        "variant": "12:49039764 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49039764-A-C?dataset=gnomad_r4",
        "id": "12-49039764-A-C",
        "variant": "12:49039764 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 49039764,
          "referenceAllele": "A",
          "start": 49039763
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49039764A>C",
        "CM000674.2:g.49039764A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 49433547,
          "referenceAllele": "A",
          "start": 49433546
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49433547A>C",
        "CM000674.1:g.49433547A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 47719814,
          "referenceAllele": "A",
          "start": 47719813
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47719814A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20561,
          "referenceAllele": "T",
          "start": 20560
        }
      ],
      "hgvs": [
        "NG_027827.1:g.20561T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9225,
          "referenceAllele": "T",
          "start": 9224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.8006T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Met2669Arg",
        "hgvsWellDefined": "ENSP00000506726.1:p.Met2669Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8015,
          "referenceAllele": "T",
          "start": 8014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.8015T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Met2672Arg",
        "hgvsWellDefined": "ENSP00000509386.1:p.Met2672Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689060.1:c.2025T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1679,
          "referenceAllele": "T",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689143.1:c.1679T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509839.1:p.Met560Arg",
        "hgvsWellDefined": "ENSP00000509839.1:p.Met560Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2115,
          "referenceAllele": "T",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689944.1:c.2115T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8003,
          "referenceAllele": "T",
          "start": 8002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.8003T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Met2668Arg",
        "hgvsWellDefined": "ENSP00000509666.1:p.Met2668Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9225,
          "referenceAllele": "T",
          "start": 9224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.8006T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Met2669Arg",
        "hgvsWellDefined": "ENSP00000301067.7:p.Met2669Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.8006T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.8006T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Met2669Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Met2669Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8006,
          "referenceAllele": "T",
          "start": 8005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.8006T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Met2669Arg",
        "hgvsWellDefined": "ENSP00000301067.7:p.Met2669Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA160572",
      "coordinates": [
        {
          "allele": "G",
          "end": 8006,
          "referenceAllele": "T",
          "start": 8005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.8006T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Met2669Arg",
        "hgvsWellDefined": "NP_003473.3:p.Met2669Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9300,
          "referenceAllele": "T",
          "start": 9299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.8006T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Met2669Arg",
        "hgvsWellDefined": "XP_005269219.1:p.Met2669Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9309,
          "referenceAllele": "T",
          "start": 9308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.8015T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Met2672Arg",
        "hgvsWellDefined": "XP_006719677.1:p.Met2672Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9296,
          "referenceAllele": "T",
          "start": 9295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.8003T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Met2668Arg",
        "hgvsWellDefined": "XP_006719679.1:p.Met2668Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9316,
          "referenceAllele": "T",
          "start": 9315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.8015T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Met2672Arg",
        "hgvsWellDefined": "XP_011537072.1:p.Met2672Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9313,
          "referenceAllele": "T",
          "start": 9312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.8012T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Met2671Arg",
        "hgvsWellDefined": "XP_011537073.1:p.Met2671Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9306,
          "referenceAllele": "T",
          "start": 9305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.8006T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Met2669Arg",
        "hgvsWellDefined": "XP_011537074.1:p.Met2669Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9303,
          "referenceAllele": "T",
          "start": 9302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.8003T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Met2668Arg",
        "hgvsWellDefined": "XP_011537075.1:p.Met2668Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9296,
          "referenceAllele": "T",
          "start": 9295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.7994T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Met2665Arg",
        "hgvsWellDefined": "XP_011537076.1:p.Met2665Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9319,
          "referenceAllele": "T",
          "start": 9318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.8015T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Met2672Arg",
        "hgvsWellDefined": "XP_011537077.1:p.Met2672Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9223,
          "referenceAllele": "T",
          "start": 9222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.7922T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Met2641Arg",
        "hgvsWellDefined": "XP_011537078.1:p.Met2641Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10335,
          "referenceAllele": "T",
          "start": 10334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.10335T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9285,
          "referenceAllele": "T",
          "start": 9284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.8006T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Met2669Arg",
        "hgvsWellDefined": "XP_005269219.1:p.Met2669Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9295,
          "referenceAllele": "T",
          "start": 9294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.8015T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Met2672Arg",
        "hgvsWellDefined": "XP_006719677.1:p.Met2672Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9282,
          "referenceAllele": "T",
          "start": 9281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.8003T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Met2668Arg",
        "hgvsWellDefined": "XP_006719679.1:p.Met2668Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9297,
          "referenceAllele": "T",
          "start": 9296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.8015T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Met2672Arg",
        "hgvsWellDefined": "XP_011537072.1:p.Met2672Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9294,
          "referenceAllele": "T",
          "start": 9293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.8012T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Met2671Arg",
        "hgvsWellDefined": "XP_011537073.1:p.Met2671Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9288,
          "referenceAllele": "T",
          "start": 9287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.8006T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Met2669Arg",
        "hgvsWellDefined": "XP_011537074.1:p.Met2669Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9285,
          "referenceAllele": "T",
          "start": 9284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.8003T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Met2668Arg",
        "hgvsWellDefined": "XP_011537075.1:p.Met2668Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9277,
          "referenceAllele": "T",
          "start": 9276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.7994T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Met2665Arg",
        "hgvsWellDefined": "XP_011537076.1:p.Met2665Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9204,
          "referenceAllele": "T",
          "start": 9203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.7922T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Met2641Arg",
        "hgvsWellDefined": "XP_011537078.1:p.Met2641Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9324,
          "referenceAllele": "T",
          "start": 9323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.9324T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA160572",
      "coordinates": [
        {
          "allele": "G",
          "end": 9225,
          "referenceAllele": "T",
          "start": 9224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.8006T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Met2669Arg",
        "hgvsWellDefined": "NP_003473.3:p.Met2669Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.8006T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.8006T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Met2669Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Met2669Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}