{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349607646",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.48870A>G (p.Ile16290Met)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179479371T>C?assembly=hg19",
        "id": "chr2:g.179479371T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178614644T>C?assembly=hg38",
        "id": "chr2:g.178614644T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178614644,
          "referenceAllele": "T",
          "start": 178614643
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178614644T>C",
        "CM000664.2:g.178614644T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179479371,
          "referenceAllele": "T",
          "start": 179479370
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179479371T>C",
        "CM000664.1:g.179479371T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179187616,
          "referenceAllele": "T",
          "start": 179187615
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179187616T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 221159,
          "referenceAllele": "A",
          "start": 221158
        }
      ],
      "hgvs": [
        "NG_011618.3:g.221159A>G",
        "LRG_391:g.221159A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 96818,
          "referenceAllele": "T",
          "start": 96817
        }
      ],
      "hgvs": [
        "NG_051363.1:g.96818T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41391,
          "referenceAllele": "A",
          "start": 41390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.41166A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Ile13722Met",
        "hgvsWellDefined": "ENSP00000343764.6:p.Ile13722Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22251,
          "referenceAllele": "A",
          "start": 22250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.22251A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Ile7417Met",
        "hgvsWellDefined": "ENSP00000340554.6:p.Ile7417Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22050,
          "referenceAllele": "A",
          "start": 22049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.22050A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Ile7350Met",
        "hgvsWellDefined": "ENSP00000352154.5:p.Ile7350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22476,
          "referenceAllele": "A",
          "start": 22475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.22251A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Ile7417Met",
        "hgvsWellDefined": "ENSP00000340554.6:p.Ile7417Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41389,
          "referenceAllele": "A",
          "start": 41388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.41166A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Ile13722Met",
        "hgvsWellDefined": "ENSP00000343764.6:p.Ile13722Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22275,
          "referenceAllele": "A",
          "start": 22274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.22050A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Ile7350Met",
        "hgvsWellDefined": "ENSP00000352154.5:p.Ile7350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21900,
          "referenceAllele": "A",
          "start": 21899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.21675A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Ile7225Met",
        "hgvsWellDefined": "ENSP00000434586.1:p.Ile7225Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49095,
          "referenceAllele": "A",
          "start": 49094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.48870A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Ile16290Met",
        "hgvsWellDefined": "ENSP00000467141.1:p.Ile16290Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48870A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48870A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Ile16290Met"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Ile16290Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44172,
          "referenceAllele": "A",
          "start": 44171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.43947A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Ile14649Met",
        "hgvsWellDefined": "ENSP00000465570.1:p.Ile14649Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44172,
          "referenceAllele": "A",
          "start": 44171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.43947A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Ile14649Met",
        "hgvsWellDefined": "ENSP00000483597.1:p.Ile14649Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44172,
          "referenceAllele": "A",
          "start": 44171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.43947A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Ile14649Met",
        "hgvsWellDefined": "NP_001243779.1:p.Ile14649Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49095,
          "referenceAllele": "A",
          "start": 49094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.48870A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Ile16290Met",
        "hgvsWellDefined": "NP_001254479.2:p.Ile16290Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48870A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48870A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Ile16290Met"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Ile16290Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21900,
          "referenceAllele": "A",
          "start": 21899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.21675A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Ile7225Met",
        "hgvsWellDefined": "NP_003310.4:p.Ile7225Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41391,
          "referenceAllele": "A",
          "start": 41390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.41166A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Ile13722Met",
        "hgvsWellDefined": "NP_596869.4:p.Ile13722Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22275,
          "referenceAllele": "A",
          "start": 22274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.22050A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Ile7350Met",
        "hgvsWellDefined": "NP_597676.3:p.Ile7350Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22476,
          "referenceAllele": "A",
          "start": 22475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.22251A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Ile7417Met",
        "hgvsWellDefined": "NP_597681.4:p.Ile7417Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1392,
          "referenceAllele": "T",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.1392T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48363,
          "referenceAllele": "A",
          "start": 48362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.47967A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Ile15989Met",
        "hgvsWellDefined": "XP_011510031.1:p.Ile15989Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22257,
          "referenceAllele": "A",
          "start": 22256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.21861A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Ile7287Met",
        "hgvsWellDefined": "XP_011510032.1:p.Ile7287Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22116,
          "referenceAllele": "A",
          "start": 22115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.21720A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Ile7240Met",
        "hgvsWellDefined": "XP_011510033.1:p.Ile7240Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 47988,
          "referenceAllele": "A",
          "start": 47987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.47763A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Ile15921Met",
        "hgvsWellDefined": "XP_016860308.1:p.Ile15921Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43386,
          "referenceAllele": "A",
          "start": 43385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.43161A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Ile14387Met",
        "hgvsWellDefined": "XP_016860309.1:p.Ile14387Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43383,
          "referenceAllele": "A",
          "start": 43382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.43158A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Ile14386Met",
        "hgvsWellDefined": "XP_016860310.1:p.Ile14386Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40425,
          "referenceAllele": "A",
          "start": 40424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.40200A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Ile13400Met",
        "hgvsWellDefined": "XP_016860311.1:p.Ile13400Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22041,
          "referenceAllele": "A",
          "start": 22040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.21816A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Ile7272Met",
        "hgvsWellDefined": "XP_016860312.1:p.Ile7272Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43536,
          "referenceAllele": "A",
          "start": 43535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.43311A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Ile14437Met",
        "hgvsWellDefined": "XP_024308862.1:p.Ile14437Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43533,
          "referenceAllele": "A",
          "start": 43532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.43308A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Ile14436Met",
        "hgvsWellDefined": "XP_024308863.1:p.Ile14436Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42966,
          "referenceAllele": "A",
          "start": 42965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.42741A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Ile14247Met",
        "hgvsWellDefined": "XP_024308864.1:p.Ile14247Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40308,
          "referenceAllele": "A",
          "start": 40307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.40083A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Ile13361Met",
        "hgvsWellDefined": "XP_024308865.1:p.Ile13361Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40227,
          "referenceAllele": "A",
          "start": 40226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.40002A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Ile13334Met",
        "hgvsWellDefined": "XP_024308866.1:p.Ile13334Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21990,
          "referenceAllele": "A",
          "start": 21989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.21765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Ile7255Met",
        "hgvsWellDefined": "XP_024308867.1:p.Ile7255Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11645,
          "referenceAllele": "A",
          "start": 11644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.11619A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Ile3873Met",
        "hgvsWellDefined": "XP_024308868.1:p.Ile3873Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}