{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6546967",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.7934G>A (p.Arg2645Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265914[alleleid]",
        "alleleId": 265914,
        "preferredName": "NM_003482.4(KMT2D):c.7934G>A (p.Arg2645Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281677",
        "RCV": [
          "RCV000263871",
          "RCV002519094"
        ],
        "variationId": 281677
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-49433619-C-T",
        "id": "12-49433619-C-T",
        "variant": "12:49433619 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49433619C>T?assembly=hg19",
        "id": "chr12:g.49433619C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49039836C>T?assembly=hg38",
        "id": "chr12:g.49039836C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375980443",
        "rs": 375980443
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49433619-C-T?dataset=gnomad_r2_1",
        "id": "12-49433619-C-T",
        "variant": "12:49433619 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49039836-C-T?dataset=gnomad_r3",
        "id": "12-49039836-C-T",
        "variant": "12:49039836 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49039836-C-T?dataset=gnomad_r4",
        "id": "12-49039836-C-T",
        "variant": "12:49039836 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 49039836,
          "referenceAllele": "C",
          "start": 49039835
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49039836C>T",
        "CM000674.2:g.49039836C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 49433619,
          "referenceAllele": "C",
          "start": 49433618
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49433619C>T",
        "CM000674.1:g.49433619C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 47719886,
          "referenceAllele": "C",
          "start": 47719885
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47719886C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20489,
          "referenceAllele": "G",
          "start": 20488
        }
      ],
      "hgvs": [
        "NG_027827.1:g.20489G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9153,
          "referenceAllele": "G",
          "start": 9152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.7934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Arg2645Gln",
        "hgvsWellDefined": "ENSP00000506726.1:p.Arg2645Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7943,
          "referenceAllele": "G",
          "start": 7942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.7943G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Arg2648Gln",
        "hgvsWellDefined": "ENSP00000509386.1:p.Arg2648Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1953,
          "referenceAllele": "G",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689060.1:c.1953G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1607,
          "referenceAllele": "G",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689143.1:c.1607G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509839.1:p.Arg536Gln",
        "hgvsWellDefined": "ENSP00000509839.1:p.Arg536Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2043,
          "referenceAllele": "G",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000689944.1:c.2043G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7931,
          "referenceAllele": "G",
          "start": 7930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.7931G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Arg2644Gln",
        "hgvsWellDefined": "ENSP00000509666.1:p.Arg2644Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9153,
          "referenceAllele": "G",
          "start": 9152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.7934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Arg2645Gln",
        "hgvsWellDefined": "ENSP00000301067.7:p.Arg2645Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.7934G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.7934G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg2645Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg2645Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7934,
          "referenceAllele": "G",
          "start": 7933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.7934G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Arg2645Gln",
        "hgvsWellDefined": "ENSP00000301067.7:p.Arg2645Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645489736",
      "coordinates": [
        {
          "allele": "A",
          "end": 7934,
          "referenceAllele": "G",
          "start": 7933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.7934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg2645Gln",
        "hgvsWellDefined": "NP_003473.3:p.Arg2645Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9228,
          "referenceAllele": "G",
          "start": 9227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.7934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg2645Gln",
        "hgvsWellDefined": "XP_005269219.1:p.Arg2645Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9237,
          "referenceAllele": "G",
          "start": 9236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.7943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg2648Gln",
        "hgvsWellDefined": "XP_006719677.1:p.Arg2648Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9224,
          "referenceAllele": "G",
          "start": 9223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.7931G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg2644Gln",
        "hgvsWellDefined": "XP_006719679.1:p.Arg2644Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9244,
          "referenceAllele": "G",
          "start": 9243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.7943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg2648Gln",
        "hgvsWellDefined": "XP_011537072.1:p.Arg2648Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9241,
          "referenceAllele": "G",
          "start": 9240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.7940G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg2647Gln",
        "hgvsWellDefined": "XP_011537073.1:p.Arg2647Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9234,
          "referenceAllele": "G",
          "start": 9233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.7934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg2645Gln",
        "hgvsWellDefined": "XP_011537074.1:p.Arg2645Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9231,
          "referenceAllele": "G",
          "start": 9230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.7931G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg2644Gln",
        "hgvsWellDefined": "XP_011537075.1:p.Arg2644Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9224,
          "referenceAllele": "G",
          "start": 9223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.7922G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Arg2641Gln",
        "hgvsWellDefined": "XP_011537076.1:p.Arg2641Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9247,
          "referenceAllele": "G",
          "start": 9246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.7943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Arg2648Gln",
        "hgvsWellDefined": "XP_011537077.1:p.Arg2648Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9151,
          "referenceAllele": "G",
          "start": 9150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.7850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg2617Gln",
        "hgvsWellDefined": "XP_011537078.1:p.Arg2617Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10263,
          "referenceAllele": "G",
          "start": 10262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.10263G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9213,
          "referenceAllele": "G",
          "start": 9212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.7934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg2645Gln",
        "hgvsWellDefined": "XP_005269219.1:p.Arg2645Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9223,
          "referenceAllele": "G",
          "start": 9222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.7943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg2648Gln",
        "hgvsWellDefined": "XP_006719677.1:p.Arg2648Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9210,
          "referenceAllele": "G",
          "start": 9209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.7931G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg2644Gln",
        "hgvsWellDefined": "XP_006719679.1:p.Arg2644Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9225,
          "referenceAllele": "G",
          "start": 9224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.7943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg2648Gln",
        "hgvsWellDefined": "XP_011537072.1:p.Arg2648Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9222,
          "referenceAllele": "G",
          "start": 9221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.7940G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg2647Gln",
        "hgvsWellDefined": "XP_011537073.1:p.Arg2647Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9216,
          "referenceAllele": "G",
          "start": 9215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.7934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg2645Gln",
        "hgvsWellDefined": "XP_011537074.1:p.Arg2645Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9213,
          "referenceAllele": "G",
          "start": 9212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.7931G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg2644Gln",
        "hgvsWellDefined": "XP_011537075.1:p.Arg2644Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9205,
          "referenceAllele": "G",
          "start": 9204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.7922G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Arg2641Gln",
        "hgvsWellDefined": "XP_011537076.1:p.Arg2641Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9132,
          "referenceAllele": "G",
          "start": 9131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.7850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg2617Gln",
        "hgvsWellDefined": "XP_011537078.1:p.Arg2617Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9252,
          "referenceAllele": "G",
          "start": 9251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.9252G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645489736",
      "coordinates": [
        {
          "allele": "A",
          "end": 9153,
          "referenceAllele": "G",
          "start": 9152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.7934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg2645Gln",
        "hgvsWellDefined": "NP_003473.3:p.Arg2645Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.7934G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.7934G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg2645Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg2645Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}