{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2175374981",
  "communityStandardTitle": [
    "NM_016132.5(MYEF2):c.*6225C=",
    "NM_205850.3(SLC24A5):c.591G= (p.Trp197=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886037643",
        "rs": 886037643
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48136683,
          "referenceAllele": "G",
          "start": 48136682
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48136683G=",
        "CM000677.2:g.48136683G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 48428880,
          "referenceAllele": "G",
          "start": 48428879
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48428880G=",
        "CM000677.1:g.48428880G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 46216172,
          "referenceAllele": "G",
          "start": 46216171
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46216172G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20712,
          "referenceAllele": "G",
          "start": 20711
        }
      ],
      "hgvs": [
        "NG_011500.1:g.20712G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001768"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8086,
          "referenceAllele": "C",
          "start": 8085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017940",
      "geneNCBI_id": 50804,
      "geneSymbol": "MYEF2",
      "hgvs": [
        "ENST00000324324.12:c.*6225C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316950.7:n.*6225C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324324.12:c.*6225C="
          },
          "RefSeq": {
            "hgvs": "NM_016132.5:c.*6225C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316950.7:n.*6225C="
          },
          "RefSeq": {
            "hgvs": "NP_057216.3:n.*6225C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "ENST00000341459.8:c.591G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341550.3:p.Trp197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341459.8:c.591G="
          },
          "RefSeq": {
            "hgvs": "NM_205850.3:c.591G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341550.3:p.Trp197="
          },
          "RefSeq": {
            "hgvs": "NP_995322.1:p.Trp197="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8308,
          "referenceAllele": "C",
          "start": 8307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017940",
      "geneNCBI_id": 50804,
      "geneSymbol": "MYEF2",
      "hgvs": [
        "ENST00000324324.11:c.*6225C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316950.7:n.*6225C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "ENST00000341459.7:c.591G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341550.3:p.Trp197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "G",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "ENST00000449382.2:c.411G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389966.2:p.Trp137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "ENST00000463289.1:n.351G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082218950",
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "NM_205850.2:c.591G="
      ],
      "proteinEffect": {
        "hgvs": "NP_995322.1:p.Trp197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "XM_011521458.1:c.612G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519760.1:p.Trp204="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8256,
          "referenceAllele": "C",
          "start": 8255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017940",
      "geneNCBI_id": 50804,
      "geneSymbol": "MYEF2",
      "hgvs": [
        "XM_005254425.4:c.*6380C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254482.2:n.*6380C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1765,
          "referenceAllele": "G",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "XM_017022079.1:c.345G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877568.1:p.Trp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1985,
          "referenceAllele": "G",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "XM_017022080.1:c.345G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877569.1:p.Trp115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8205,
          "referenceAllele": "C",
          "start": 8204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017940",
      "geneNCBI_id": 50804,
      "geneSymbol": "MYEF2",
      "hgvs": [
        "XM_017022285.1:c.*6380C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877774.1:n.*6380C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8184,
          "referenceAllele": "C",
          "start": 8183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017940",
      "geneNCBI_id": 50804,
      "geneSymbol": "MYEF2",
      "hgvs": [
        "XM_017022286.1:c.*6380C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877775.1:n.*6380C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8133,
          "referenceAllele": "C",
          "start": 8132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017940",
      "geneNCBI_id": 50804,
      "geneSymbol": "MYEF2",
      "hgvs": [
        "XM_017022287.1:c.*6380C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877776.1:n.*6380C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7976,
          "referenceAllele": "C",
          "start": 7975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017940",
      "geneNCBI_id": 50804,
      "geneSymbol": "MYEF2",
      "hgvs": [
        "XM_017022291.1:c.*6380C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877780.1:n.*6380C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7925,
          "referenceAllele": "C",
          "start": 7924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017940",
      "geneNCBI_id": 50804,
      "geneSymbol": "MYEF2",
      "hgvs": [
        "XM_017022292.1:c.*6380C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877781.1:n.*6380C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573282"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1806,
          "referenceAllele": "G",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "XM_024449901.1:c.252G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305669.1:p.Trp84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8086,
          "referenceAllele": "C",
          "start": 8085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017940",
      "geneNCBI_id": 50804,
      "geneSymbol": "MYEF2",
      "hgvs": [
        "NM_016132.5:c.*6225C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057216.3:n.*6225C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669003",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324324.12:c.*6225C="
          },
          "RefSeq": {
            "hgvs": "NM_016132.5:c.*6225C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316950.7:n.*6225C="
          },
          "RefSeq": {
            "hgvs": "NP_057216.3:n.*6225C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8014,
          "referenceAllele": "C",
          "start": 8013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017940",
      "geneNCBI_id": 50804,
      "geneSymbol": "MYEF2",
      "hgvs": [
        "NM_001301210.2:c.*6225C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288139.2:n.*6225C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082218950",
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020611",
      "geneNCBI_id": 283652,
      "geneSymbol": "SLC24A5",
      "hgvs": [
        "NM_205850.3:c.591G="
      ],
      "proteinEffect": {
        "hgvs": "NP_995322.1:p.Trp197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701665",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341459.8:c.591G="
          },
          "RefSeq": {
            "hgvs": "NM_205850.3:c.591G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341550.3:p.Trp197="
          },
          "RefSeq": {
            "hgvs": "NP_995322.1:p.Trp197="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}