{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349607158",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.48983C>G (p.Thr16328Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179479258G>C?assembly=hg19",
        "id": "chr2:g.179479258G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178614531G>C?assembly=hg38",
        "id": "chr2:g.178614531G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178614531,
          "referenceAllele": "G",
          "start": 178614530
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178614531G>C",
        "CM000664.2:g.178614531G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179479258,
          "referenceAllele": "G",
          "start": 179479257
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179479258G>C",
        "CM000664.1:g.179479258G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179187503,
          "referenceAllele": "G",
          "start": 179187502
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179187503G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 221272,
          "referenceAllele": "C",
          "start": 221271
        }
      ],
      "hgvs": [
        "NG_011618.3:g.221272C>G",
        "LRG_391:g.221272C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 96705,
          "referenceAllele": "G",
          "start": 96704
        }
      ],
      "hgvs": [
        "NG_051363.1:g.96705G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41504,
          "referenceAllele": "C",
          "start": 41503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.41279C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Thr13760Arg",
        "hgvsWellDefined": "ENSP00000343764.6:p.Thr13760Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22364,
          "referenceAllele": "C",
          "start": 22363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.22364C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Thr7455Arg",
        "hgvsWellDefined": "ENSP00000340554.6:p.Thr7455Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22163,
          "referenceAllele": "C",
          "start": 22162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.22163C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Thr7388Arg",
        "hgvsWellDefined": "ENSP00000352154.5:p.Thr7388Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22589,
          "referenceAllele": "C",
          "start": 22588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.22364C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Thr7455Arg",
        "hgvsWellDefined": "ENSP00000340554.6:p.Thr7455Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41502,
          "referenceAllele": "C",
          "start": 41501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.41279C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Thr13760Arg",
        "hgvsWellDefined": "ENSP00000343764.6:p.Thr13760Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22388,
          "referenceAllele": "C",
          "start": 22387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.22163C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Thr7388Arg",
        "hgvsWellDefined": "ENSP00000352154.5:p.Thr7388Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22013,
          "referenceAllele": "C",
          "start": 22012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.21788C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Thr7263Arg",
        "hgvsWellDefined": "ENSP00000434586.1:p.Thr7263Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49208,
          "referenceAllele": "C",
          "start": 49207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.48983C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Thr16328Arg",
        "hgvsWellDefined": "ENSP00000467141.1:p.Thr16328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48983C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48983C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Thr16328Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Thr16328Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44285,
          "referenceAllele": "C",
          "start": 44284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.44060C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Thr14687Arg",
        "hgvsWellDefined": "ENSP00000465570.1:p.Thr14687Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44285,
          "referenceAllele": "C",
          "start": 44284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.44060C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Thr14687Arg",
        "hgvsWellDefined": "ENSP00000483597.1:p.Thr14687Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44285,
          "referenceAllele": "C",
          "start": 44284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.44060C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Thr14687Arg",
        "hgvsWellDefined": "NP_001243779.1:p.Thr14687Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49208,
          "referenceAllele": "C",
          "start": 49207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.48983C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Thr16328Arg",
        "hgvsWellDefined": "NP_001254479.2:p.Thr16328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48983C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48983C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Thr16328Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Thr16328Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22013,
          "referenceAllele": "C",
          "start": 22012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.21788C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Thr7263Arg",
        "hgvsWellDefined": "NP_003310.4:p.Thr7263Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41504,
          "referenceAllele": "C",
          "start": 41503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.41279C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Thr13760Arg",
        "hgvsWellDefined": "NP_596869.4:p.Thr13760Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22388,
          "referenceAllele": "C",
          "start": 22387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.22163C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Thr7388Arg",
        "hgvsWellDefined": "NP_597676.3:p.Thr7388Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22589,
          "referenceAllele": "C",
          "start": 22588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.22364C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Thr7455Arg",
        "hgvsWellDefined": "NP_597681.4:p.Thr7455Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "referenceAllele": "G",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.1279G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48476,
          "referenceAllele": "C",
          "start": 48475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.48080C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Thr16027Arg",
        "hgvsWellDefined": "XP_011510031.1:p.Thr16027Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22370,
          "referenceAllele": "C",
          "start": 22369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.21974C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Thr7325Arg",
        "hgvsWellDefined": "XP_011510032.1:p.Thr7325Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22229,
          "referenceAllele": "C",
          "start": 22228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.21833C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Thr7278Arg",
        "hgvsWellDefined": "XP_011510033.1:p.Thr7278Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48101,
          "referenceAllele": "C",
          "start": 48100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.47876C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Thr15959Arg",
        "hgvsWellDefined": "XP_016860308.1:p.Thr15959Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43499,
          "referenceAllele": "C",
          "start": 43498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.43274C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Thr14425Arg",
        "hgvsWellDefined": "XP_016860309.1:p.Thr14425Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43496,
          "referenceAllele": "C",
          "start": 43495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.43271C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Thr14424Arg",
        "hgvsWellDefined": "XP_016860310.1:p.Thr14424Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40538,
          "referenceAllele": "C",
          "start": 40537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.40313C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Thr13438Arg",
        "hgvsWellDefined": "XP_016860311.1:p.Thr13438Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22154,
          "referenceAllele": "C",
          "start": 22153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.21929C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Thr7310Arg",
        "hgvsWellDefined": "XP_016860312.1:p.Thr7310Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43649,
          "referenceAllele": "C",
          "start": 43648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.43424C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Thr14475Arg",
        "hgvsWellDefined": "XP_024308862.1:p.Thr14475Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43646,
          "referenceAllele": "C",
          "start": 43645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.43421C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Thr14474Arg",
        "hgvsWellDefined": "XP_024308863.1:p.Thr14474Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43079,
          "referenceAllele": "C",
          "start": 43078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.42854C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Thr14285Arg",
        "hgvsWellDefined": "XP_024308864.1:p.Thr14285Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40421,
          "referenceAllele": "C",
          "start": 40420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.40196C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Thr13399Arg",
        "hgvsWellDefined": "XP_024308865.1:p.Thr13399Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40340,
          "referenceAllele": "C",
          "start": 40339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.40115C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Thr13372Arg",
        "hgvsWellDefined": "XP_024308866.1:p.Thr13372Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22103,
          "referenceAllele": "C",
          "start": 22102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.21878C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Thr7293Arg",
        "hgvsWellDefined": "XP_024308867.1:p.Thr7293Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11758,
          "referenceAllele": "C",
          "start": 11757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.11732C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Thr3911Arg",
        "hgvsWellDefined": "XP_024308868.1:p.Thr3911Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}