{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1310534392",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.68437G= (p.Glu22813=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200797552",
        "rs": 200797552
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178578078,
          "referenceAllele": "C",
          "start": 178578077
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178578078C=",
        "CM000664.2:g.178578078C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179442805,
          "referenceAllele": "C",
          "start": 179442804
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179442805C=",
        "CM000664.1:g.179442805C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179151051,
          "referenceAllele": "C",
          "start": 179151050
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179151051C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 257725,
          "referenceAllele": "G",
          "start": 257724
        }
      ],
      "hgvs": [
        "NG_011618.3:g.257725G=",
        "LRG_391:g.257725G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60252,
          "referenceAllele": "C",
          "start": 60251
        }
      ],
      "hgvs": [
        "NG_051363.1:g.60252C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60958,
          "referenceAllele": "G",
          "start": 60957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.60733G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Glu20245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41818,
          "referenceAllele": "G",
          "start": 41817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.41818G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Glu13940="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41617,
          "referenceAllele": "G",
          "start": 41616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.41617G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Glu13873="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42043,
          "referenceAllele": "G",
          "start": 42042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.41818G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Glu13940="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60956,
          "referenceAllele": "G",
          "start": 60955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.60733G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Glu20245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41842,
          "referenceAllele": "G",
          "start": 41841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.41617G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Glu13873="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41467,
          "referenceAllele": "G",
          "start": 41466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.41242G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Glu13748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 68662,
          "referenceAllele": "G",
          "start": 68661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.68437G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Glu22813="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.68437G="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.68437G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Glu22813="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Glu22813="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63739,
          "referenceAllele": "G",
          "start": 63738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.63514G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Glu21172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63739,
          "referenceAllele": "G",
          "start": 63738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.63514G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Glu21172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63739,
          "referenceAllele": "G",
          "start": 63738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.63514G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Glu21172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 68662,
          "referenceAllele": "G",
          "start": 68661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.68437G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Glu22813="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.68437G="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.68437G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Glu22813="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Glu22813="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41467,
          "referenceAllele": "G",
          "start": 41466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.41242G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Glu13748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066593674",
      "coordinates": [
        {
          "allele": "G",
          "end": 60958,
          "referenceAllele": "G",
          "start": 60957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.60733G="
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Glu20245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41842,
          "referenceAllele": "G",
          "start": 41841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.41617G="
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Glu13873="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42043,
          "referenceAllele": "G",
          "start": 42042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.41818G="
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Glu13940="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 6629,
          "referenceAllele": "C",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 6628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.596+6629C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2043,
          "endIntronDirection": "-",
          "endIntronOffset": 4493,
          "referenceAllele": "C",
          "start": 2043,
          "startIntronDirection": "-",
          "startIntronOffset": 4494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.2044-4494C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67930,
          "referenceAllele": "G",
          "start": 67929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.67534G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Glu22512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41824,
          "referenceAllele": "G",
          "start": 41823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.41428G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Glu13810="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41683,
          "referenceAllele": "G",
          "start": 41682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.41287G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Glu13763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67555,
          "referenceAllele": "G",
          "start": 67554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.67330G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Glu22444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62953,
          "referenceAllele": "G",
          "start": 62952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.62728G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Glu20910="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62950,
          "referenceAllele": "G",
          "start": 62949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.62725G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Glu20909="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59992,
          "referenceAllele": "G",
          "start": 59991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.59767G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Glu19923="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41608,
          "referenceAllele": "G",
          "start": 41607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.41383G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Glu13795="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63103,
          "referenceAllele": "G",
          "start": 63102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.62878G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Glu20960="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63100,
          "referenceAllele": "G",
          "start": 63099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.62875G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Glu20959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62533,
          "referenceAllele": "G",
          "start": 62532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.62308G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Glu20770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59875,
          "referenceAllele": "G",
          "start": 59874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.59650G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Glu19884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59794,
          "referenceAllele": "G",
          "start": 59793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.59569G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Glu19857="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41557,
          "referenceAllele": "G",
          "start": 41556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.41332G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Glu13778="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31212,
          "referenceAllele": "G",
          "start": 31211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.31186G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Glu10396="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}