{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA430256275",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.73443C>T (p.Tyr24481=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179437416G>A?assembly=hg19",
        "id": "chr2:g.179437416G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057523460",
        "rs": 1057523460
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-178572689-G-A?dataset=gnomad_r4",
        "id": "2-178572689-G-A",
        "variant": "2:178572689 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 178572689,
          "referenceAllele": "G",
          "start": 178572688
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178572689G>A",
        "CM000664.2:g.178572689G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 179437416,
          "referenceAllele": "G",
          "start": 179437415
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179437416G>A",
        "CM000664.1:g.179437416G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 179145662,
          "referenceAllele": "G",
          "start": 179145661
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179145662G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263114,
          "referenceAllele": "C",
          "start": 263113
        }
      ],
      "hgvs": [
        "NG_011618.3:g.263114C>T",
        "LRG_391:g.263114C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54863,
          "referenceAllele": "G",
          "start": 54862
        }
      ],
      "hgvs": [
        "NG_051363.1:g.54863G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65964,
          "referenceAllele": "C",
          "start": 65963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.65739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Tyr21913="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46824,
          "referenceAllele": "C",
          "start": 46823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.46824C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Tyr15608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46623,
          "referenceAllele": "C",
          "start": 46622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.46623C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Tyr15541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47049,
          "referenceAllele": "C",
          "start": 47048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.46824C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Tyr15608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65962,
          "referenceAllele": "C",
          "start": 65961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.65739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Tyr21913="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46848,
          "referenceAllele": "C",
          "start": 46847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.46623C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Tyr15541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46473,
          "referenceAllele": "C",
          "start": 46472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.46248C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Tyr15416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 73668,
          "referenceAllele": "C",
          "start": 73667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.73443C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Tyr24481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.73443C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.73443C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Tyr24481="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Tyr24481="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68745,
          "referenceAllele": "C",
          "start": 68744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.68520C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Tyr22840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68745,
          "referenceAllele": "C",
          "start": 68744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.68520C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Tyr22840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68745,
          "referenceAllele": "C",
          "start": 68744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.68520C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Tyr22840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 73668,
          "referenceAllele": "C",
          "start": 73667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.73443C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Tyr24481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.73443C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.73443C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Tyr24481="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Tyr24481="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46473,
          "referenceAllele": "C",
          "start": 46472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.46248C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Tyr15416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067233858",
      "coordinates": [
        {
          "allele": "T",
          "end": 65964,
          "referenceAllele": "C",
          "start": 65963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.65739C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Tyr21913="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46848,
          "referenceAllele": "C",
          "start": 46847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.46623C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Tyr15541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47049,
          "referenceAllele": "C",
          "start": 47048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.46824C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Tyr15608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 1240,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.596+1240G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2043,
          "endIntronDirection": "-",
          "endIntronOffset": 9882,
          "referenceAllele": "G",
          "start": 2043,
          "startIntronDirection": "-",
          "startIntronOffset": 9883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.2044-9883G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72936,
          "referenceAllele": "C",
          "start": 72935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.72540C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Tyr24180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46830,
          "referenceAllele": "C",
          "start": 46829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.46434C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Tyr15478="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46689,
          "referenceAllele": "C",
          "start": 46688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.46293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Tyr15431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72561,
          "referenceAllele": "C",
          "start": 72560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.72336C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Tyr24112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67959,
          "referenceAllele": "C",
          "start": 67958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.67734C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Tyr22578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67956,
          "referenceAllele": "C",
          "start": 67955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.67731C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Tyr22577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64998,
          "referenceAllele": "C",
          "start": 64997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.64773C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Tyr21591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46614,
          "referenceAllele": "C",
          "start": 46613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.46389C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Tyr15463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68109,
          "referenceAllele": "C",
          "start": 68108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.67884C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Tyr22628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68106,
          "referenceAllele": "C",
          "start": 68105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.67881C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Tyr22627="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67539,
          "referenceAllele": "C",
          "start": 67538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.67314C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Tyr22438="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64881,
          "referenceAllele": "C",
          "start": 64880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.64656C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Tyr21552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64800,
          "referenceAllele": "C",
          "start": 64799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.64575C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Tyr21525="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46563,
          "referenceAllele": "C",
          "start": 46562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.46338C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Tyr15446="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36218,
          "referenceAllele": "C",
          "start": 36217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.36192C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Tyr12064="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}