{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1310530812",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.77212C= (p.Gln25738=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057523502",
        "rs": 1057523502
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 178568920,
          "referenceAllele": "G",
          "start": 178568919
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178568920G=",
        "CM000664.2:g.178568920G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 179433647,
          "referenceAllele": "G",
          "start": 179433646
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179433647G=",
        "CM000664.1:g.179433647G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 179141893,
          "referenceAllele": "G",
          "start": 179141892
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179141893G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 266883,
          "referenceAllele": "C",
          "start": 266882
        }
      ],
      "hgvs": [
        "NG_011618.3:g.266883C=",
        "LRG_391:g.266883C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 51094,
          "referenceAllele": "G",
          "start": 51093
        }
      ],
      "hgvs": [
        "NG_051363.1:g.51094G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69733,
          "referenceAllele": "C",
          "start": 69732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.69508C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Gln23170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50593,
          "referenceAllele": "C",
          "start": 50592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.50593C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Gln16865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50392,
          "referenceAllele": "C",
          "start": 50391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.50392C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Gln16798="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50818,
          "referenceAllele": "C",
          "start": 50817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.50593C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Gln16865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69731,
          "referenceAllele": "C",
          "start": 69730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.69508C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Gln23170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50617,
          "referenceAllele": "C",
          "start": 50616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.50392C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Gln16798="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50242,
          "referenceAllele": "C",
          "start": 50241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.50017C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Gln16673="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77437,
          "referenceAllele": "C",
          "start": 77436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.77212C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Gln25738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.77212C="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.77212C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Gln25738="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Gln25738="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72514,
          "referenceAllele": "C",
          "start": 72513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.72289C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Gln24097="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72514,
          "referenceAllele": "C",
          "start": 72513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.72289C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Gln24097="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72514,
          "referenceAllele": "C",
          "start": 72513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.72289C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Gln24097="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77437,
          "referenceAllele": "C",
          "start": 77436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.77212C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Gln25738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.77212C="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.77212C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Gln25738="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Gln25738="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50242,
          "referenceAllele": "C",
          "start": 50241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.50017C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Gln16673="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067233866",
      "coordinates": [
        {
          "allele": "C",
          "end": 69733,
          "referenceAllele": "C",
          "start": 69732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.69508C="
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Gln23170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50617,
          "referenceAllele": "C",
          "start": 50616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.50392C="
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Gln16798="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50818,
          "referenceAllele": "C",
          "start": 50817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.50593C="
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Gln16865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 2379,
          "referenceAllele": "G",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.447-2380G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2043,
          "endIntronDirection": "-",
          "endIntronOffset": 13651,
          "referenceAllele": "G",
          "start": 2043,
          "startIntronDirection": "-",
          "startIntronOffset": 13652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.2044-13652G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 76705,
          "referenceAllele": "C",
          "start": 76704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.76309C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Gln25437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50599,
          "referenceAllele": "C",
          "start": 50598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.50203C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Gln16735="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50458,
          "referenceAllele": "C",
          "start": 50457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.50062C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Gln16688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 76330,
          "referenceAllele": "C",
          "start": 76329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.76105C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Gln25369="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71728,
          "referenceAllele": "C",
          "start": 71727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.71503C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Gln23835="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71725,
          "referenceAllele": "C",
          "start": 71724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.71500C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Gln23834="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68767,
          "referenceAllele": "C",
          "start": 68766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.68542C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Gln22848="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50383,
          "referenceAllele": "C",
          "start": 50382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.50158C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Gln16720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71878,
          "referenceAllele": "C",
          "start": 71877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.71653C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Gln23885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71875,
          "referenceAllele": "C",
          "start": 71874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.71650C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Gln23884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71308,
          "referenceAllele": "C",
          "start": 71307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.71083C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Gln23695="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68650,
          "referenceAllele": "C",
          "start": 68649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.68425C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Gln22809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68569,
          "referenceAllele": "C",
          "start": 68568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.68344C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Gln22782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50332,
          "referenceAllele": "C",
          "start": 50331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.50107C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Gln16703="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39987,
          "referenceAllele": "C",
          "start": 39986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.39961C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Gln13321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}