{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384709235",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2039747[alleleid]",
        "alleleId": 2039747,
        "preferredName": "NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1985796",
        "RCV": [
          "RCV002781016",
          "RCV002805334",
          "RCV003111592"
        ],
        "variationId": 1985796
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49425695C>T?assembly=hg19",
        "id": "chr12:g.49425695C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49031912C>T?assembly=hg38",
        "id": "chr12:g.49031912C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761270194",
        "rs": 761270194
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49425695-C-T?dataset=gnomad_r2_1",
        "id": "12-49425695-C-T",
        "variant": "12:49425695 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49031912-C-T?dataset=gnomad_r4",
        "id": "12-49031912-C-T",
        "variant": "12:49031912 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 49031912,
          "referenceAllele": "C",
          "start": 49031911
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49031912C>T",
        "CM000674.2:g.49031912C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 49425695,
          "referenceAllele": "C",
          "start": 49425694
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49425695C>T",
        "CM000674.1:g.49425695C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 47711962,
          "referenceAllele": "C",
          "start": 47711961
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47711962C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28413,
          "referenceAllele": "G",
          "start": 28412
        }
      ],
      "hgvs": [
        "NG_027827.1:g.28413G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14012,
          "referenceAllele": "G",
          "start": 14011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.12793G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Gly4265Ser",
        "hgvsWellDefined": "ENSP00000506726.1:p.Gly4265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12802,
          "referenceAllele": "G",
          "start": 12801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.12802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Gly4268Ser",
        "hgvsWellDefined": "ENSP00000509386.1:p.Gly4268Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1752,
          "endIntronDirection": "-",
          "endIntronOffset": 599,
          "referenceAllele": "G",
          "start": 1752,
          "startIntronDirection": "-",
          "startIntronOffset": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685554.1:c.1753-600G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508640.1:n.1753-600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12790,
          "referenceAllele": "G",
          "start": 12789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.12790G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Gly4264Ser",
        "hgvsWellDefined": "ENSP00000509666.1:p.Gly4264Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4272,
          "referenceAllele": "G",
          "start": 4271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692841.1:c.4272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508711.1:n.4272G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14012,
          "referenceAllele": "G",
          "start": 14011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.12793G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Gly4265Ser",
        "hgvsWellDefined": "ENSP00000301067.7:p.Gly4265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.12793G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.12793G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Gly4265Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Gly4265Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12793,
          "referenceAllele": "G",
          "start": 12792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.12793G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Gly4265Ser",
        "hgvsWellDefined": "ENSP00000301067.7:p.Gly4265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580284809",
      "coordinates": [
        {
          "allele": "A",
          "end": 12793,
          "referenceAllele": "G",
          "start": 12792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.12793G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Gly4265Ser",
        "hgvsWellDefined": "NP_003473.3:p.Gly4265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14087,
          "referenceAllele": "G",
          "start": 14086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.12793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Gly4265Ser",
        "hgvsWellDefined": "XP_005269219.1:p.Gly4265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14096,
          "referenceAllele": "G",
          "start": 14095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.12802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Gly4268Ser",
        "hgvsWellDefined": "XP_006719677.1:p.Gly4268Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14083,
          "referenceAllele": "G",
          "start": 14082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.12790G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Gly4264Ser",
        "hgvsWellDefined": "XP_006719679.1:p.Gly4264Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14103,
          "referenceAllele": "G",
          "start": 14102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.12802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Gly4268Ser",
        "hgvsWellDefined": "XP_011537072.1:p.Gly4268Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14100,
          "referenceAllele": "G",
          "start": 14099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.12799G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Gly4267Ser",
        "hgvsWellDefined": "XP_011537073.1:p.Gly4267Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14093,
          "referenceAllele": "G",
          "start": 14092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.12793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Gly4265Ser",
        "hgvsWellDefined": "XP_011537074.1:p.Gly4265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14090,
          "referenceAllele": "G",
          "start": 14089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.12790G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Gly4264Ser",
        "hgvsWellDefined": "XP_011537075.1:p.Gly4264Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14083,
          "referenceAllele": "G",
          "start": 14082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.12781G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Gly4261Ser",
        "hgvsWellDefined": "XP_011537076.1:p.Gly4261Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14106,
          "referenceAllele": "G",
          "start": 14105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.12802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Gly4268Ser",
        "hgvsWellDefined": "XP_011537077.1:p.Gly4268Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14010,
          "referenceAllele": "G",
          "start": 14009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.12709G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Gly4237Ser",
        "hgvsWellDefined": "XP_011537078.1:p.Gly4237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15122,
          "referenceAllele": "G",
          "start": 15121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.15122G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14072,
          "referenceAllele": "G",
          "start": 14071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.12793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Gly4265Ser",
        "hgvsWellDefined": "XP_005269219.1:p.Gly4265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14082,
          "referenceAllele": "G",
          "start": 14081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.12802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Gly4268Ser",
        "hgvsWellDefined": "XP_006719677.1:p.Gly4268Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14069,
          "referenceAllele": "G",
          "start": 14068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.12790G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Gly4264Ser",
        "hgvsWellDefined": "XP_006719679.1:p.Gly4264Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14084,
          "referenceAllele": "G",
          "start": 14083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.12802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Gly4268Ser",
        "hgvsWellDefined": "XP_011537072.1:p.Gly4268Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14081,
          "referenceAllele": "G",
          "start": 14080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.12799G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Gly4267Ser",
        "hgvsWellDefined": "XP_011537073.1:p.Gly4267Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14075,
          "referenceAllele": "G",
          "start": 14074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.12793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Gly4265Ser",
        "hgvsWellDefined": "XP_011537074.1:p.Gly4265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14072,
          "referenceAllele": "G",
          "start": 14071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.12790G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Gly4264Ser",
        "hgvsWellDefined": "XP_011537075.1:p.Gly4264Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14064,
          "referenceAllele": "G",
          "start": 14063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.12781G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Gly4261Ser",
        "hgvsWellDefined": "XP_011537076.1:p.Gly4261Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13991,
          "referenceAllele": "G",
          "start": 13990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.12709G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Gly4237Ser",
        "hgvsWellDefined": "XP_011537078.1:p.Gly4237Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14111,
          "referenceAllele": "G",
          "start": 14110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.14111G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580284809",
      "coordinates": [
        {
          "allele": "A",
          "end": 14012,
          "referenceAllele": "G",
          "start": 14011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.12793G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Gly4265Ser",
        "hgvsWellDefined": "NP_003473.3:p.Gly4265Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.12793G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.12793G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Gly4265Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Gly4265Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}