{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1989764",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1694308[alleleid]",
        "alleleId": 1694308,
        "preferredName": "NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1701920",
        "RCV": [
          "RCV002466287",
          "RCV002337425"
        ],
        "variationId": 1701920
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-179433366-C-T",
        "id": "2-179433366-C-T",
        "variant": "2:179433366 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179433366C>T?assembly=hg19",
        "id": "chr2:g.179433366C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178568639C>T?assembly=hg38",
        "id": "chr2:g.178568639C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760625258",
        "rs": 760625258
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-179433366-C-T?dataset=gnomad_r2_1",
        "id": "2-179433366-C-T",
        "variant": "2:179433366 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-178568639-C-T?dataset=gnomad_r4",
        "id": "2-178568639-C-T",
        "variant": "2:178568639 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 178568639,
          "referenceAllele": "C",
          "start": 178568638
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178568639C>T",
        "CM000664.2:g.178568639C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 179433366,
          "referenceAllele": "C",
          "start": 179433365
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179433366C>T",
        "CM000664.1:g.179433366C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 179141612,
          "referenceAllele": "C",
          "start": 179141611
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179141612C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 267164,
          "referenceAllele": "G",
          "start": 267163
        }
      ],
      "hgvs": [
        "NG_011618.3:g.267164G>A",
        "LRG_391:g.267164G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 50813,
          "referenceAllele": "C",
          "start": 50812
        }
      ],
      "hgvs": [
        "NG_051363.1:g.50813C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70014,
          "referenceAllele": "G",
          "start": 70013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.69789G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Trp23263Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50874,
          "referenceAllele": "G",
          "start": 50873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.50874G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Trp16958Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50673,
          "referenceAllele": "G",
          "start": 50672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.50673G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Trp16891Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 51099,
          "referenceAllele": "G",
          "start": 51098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.50874G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Trp16958Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70012,
          "referenceAllele": "G",
          "start": 70011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.69789G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Trp23263Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50898,
          "referenceAllele": "G",
          "start": 50897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.50673G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Trp16891Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50523,
          "referenceAllele": "G",
          "start": 50522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.50298G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Trp16766Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 77718,
          "referenceAllele": "G",
          "start": 77717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.77493G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Trp25831Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.77493G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.77493G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Trp25831Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Trp25831Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72795,
          "referenceAllele": "G",
          "start": 72794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.72570G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Trp24190Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72795,
          "referenceAllele": "G",
          "start": 72794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.72570G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Trp24190Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72795,
          "referenceAllele": "G",
          "start": 72794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.72570G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Trp24190Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 77718,
          "referenceAllele": "G",
          "start": 77717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.77493G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Trp25831Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.77493G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.77493G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Trp25831Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Trp25831Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50523,
          "referenceAllele": "G",
          "start": 50522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.50298G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Trp16766Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70014,
          "referenceAllele": "G",
          "start": 70013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.69789G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Trp23263Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50898,
          "referenceAllele": "G",
          "start": 50897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.50673G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Trp16891Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 51099,
          "referenceAllele": "G",
          "start": 51098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.50874G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Trp16958Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 2660,
          "referenceAllele": "C",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.447-2661C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2043,
          "endIntronDirection": "-",
          "endIntronOffset": 13932,
          "referenceAllele": "C",
          "start": 2043,
          "startIntronDirection": "-",
          "startIntronOffset": 13933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.2044-13933C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76986,
          "referenceAllele": "G",
          "start": 76985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.76590G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Trp25530Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50880,
          "referenceAllele": "G",
          "start": 50879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.50484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Trp16828Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50739,
          "referenceAllele": "G",
          "start": 50738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.50343G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Trp16781Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76611,
          "referenceAllele": "G",
          "start": 76610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.76386G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Trp25462Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72009,
          "referenceAllele": "G",
          "start": 72008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.71784G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Trp23928Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72006,
          "referenceAllele": "G",
          "start": 72005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.71781G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Trp23927Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69048,
          "referenceAllele": "G",
          "start": 69047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.68823G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Trp22941Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50664,
          "referenceAllele": "G",
          "start": 50663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.50439G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Trp16813Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72159,
          "referenceAllele": "G",
          "start": 72158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.71934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Trp23978Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72156,
          "referenceAllele": "G",
          "start": 72155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.71931G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Trp23977Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71589,
          "referenceAllele": "G",
          "start": 71588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.71364G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Trp23788Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68931,
          "referenceAllele": "G",
          "start": 68930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.68706G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Trp22902Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68850,
          "referenceAllele": "G",
          "start": 68849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.68625G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Trp22875Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50613,
          "referenceAllele": "G",
          "start": 50612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.50388G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Trp16796Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40268,
          "referenceAllele": "G",
          "start": 40267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.40242G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Trp13414Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}