{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349406237",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.106301A>T (p.Asp35434Val)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179395041T>A?assembly=hg19",
        "id": "chr2:g.179395041T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178530314T>A?assembly=hg38",
        "id": "chr2:g.178530314T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 178530314,
          "referenceAllele": "T",
          "start": 178530313
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178530314T>A",
        "CM000664.2:g.178530314T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 179395041,
          "referenceAllele": "T",
          "start": 179395040
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179395041T>A",
        "CM000664.1:g.179395041T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 179103287,
          "referenceAllele": "T",
          "start": 179103286
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179103287T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 305489,
          "referenceAllele": "A",
          "start": 305488
        }
      ],
      "hgvs": [
        "NG_011618.3:g.305489A>T",
        "LRG_391:g.305489A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12488,
          "referenceAllele": "T",
          "start": 12487
        }
      ],
      "hgvs": [
        "NG_051363.1:g.12488T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98822,
          "referenceAllele": "A",
          "start": 98821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.98597A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Asp32866Val",
        "hgvsWellDefined": "ENSP00000343764.6:p.Asp32866Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79682,
          "referenceAllele": "A",
          "start": 79681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.79682A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Asp26561Val",
        "hgvsWellDefined": "ENSP00000340554.6:p.Asp26561Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79481,
          "referenceAllele": "A",
          "start": 79480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.79481A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Asp26494Val",
        "hgvsWellDefined": "ENSP00000352154.5:p.Asp26494Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79907,
          "referenceAllele": "A",
          "start": 79906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.79682A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Asp26561Val",
        "hgvsWellDefined": "ENSP00000340554.6:p.Asp26561Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98820,
          "referenceAllele": "A",
          "start": 98819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.98597A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Asp32866Val",
        "hgvsWellDefined": "ENSP00000343764.6:p.Asp32866Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79706,
          "referenceAllele": "A",
          "start": 79705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.79481A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Asp26494Val",
        "hgvsWellDefined": "ENSP00000352154.5:p.Asp26494Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79331,
          "referenceAllele": "A",
          "start": 79330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.79106A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Asp26369Val",
        "hgvsWellDefined": "ENSP00000434586.1:p.Asp26369Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106526,
          "referenceAllele": "A",
          "start": 106525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.106301A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Asp35434Val",
        "hgvsWellDefined": "ENSP00000467141.1:p.Asp35434Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.106301A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.106301A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Asp35434Val"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Asp35434Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101603,
          "referenceAllele": "A",
          "start": 101602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.101378A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Asp33793Val",
        "hgvsWellDefined": "ENSP00000465570.1:p.Asp33793Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101603,
          "referenceAllele": "A",
          "start": 101602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.101378A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Asp33793Val",
        "hgvsWellDefined": "ENSP00000483597.1:p.Asp33793Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101603,
          "referenceAllele": "A",
          "start": 101602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.101378A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Asp33793Val",
        "hgvsWellDefined": "NP_001243779.1:p.Asp33793Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106526,
          "referenceAllele": "A",
          "start": 106525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.106301A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Asp35434Val",
        "hgvsWellDefined": "NP_001254479.2:p.Asp35434Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.106301A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.106301A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Asp35434Val"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Asp35434Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79331,
          "referenceAllele": "A",
          "start": 79330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.79106A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Asp26369Val",
        "hgvsWellDefined": "NP_003310.4:p.Asp26369Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98822,
          "referenceAllele": "A",
          "start": 98821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.98597A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Asp32866Val",
        "hgvsWellDefined": "NP_596869.4:p.Asp32866Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79706,
          "referenceAllele": "A",
          "start": 79705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.79481A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Asp26494Val",
        "hgvsWellDefined": "NP_597676.3:p.Asp26494Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79907,
          "referenceAllele": "A",
          "start": 79906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.79682A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Asp26561Val",
        "hgvsWellDefined": "NP_597681.4:p.Asp26561Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "endIntronDirection": "+",
          "endIntronOffset": 6678,
          "referenceAllele": "T",
          "start": 446,
          "startIntronDirection": "+",
          "startIntronOffset": 6677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.446+6678T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 5417,
          "referenceAllele": "T",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 5418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.220-5418T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105794,
          "referenceAllele": "A",
          "start": 105793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.105398A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Asp35133Val",
        "hgvsWellDefined": "XP_011510031.1:p.Asp35133Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79688,
          "referenceAllele": "A",
          "start": 79687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.79292A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Asp26431Val",
        "hgvsWellDefined": "XP_011510032.1:p.Asp26431Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79547,
          "referenceAllele": "A",
          "start": 79546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.79151A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Asp26384Val",
        "hgvsWellDefined": "XP_011510033.1:p.Asp26384Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105419,
          "referenceAllele": "A",
          "start": 105418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.105194A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Asp35065Val",
        "hgvsWellDefined": "XP_016860308.1:p.Asp35065Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100817,
          "referenceAllele": "A",
          "start": 100816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.100592A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Asp33531Val",
        "hgvsWellDefined": "XP_016860309.1:p.Asp33531Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100814,
          "referenceAllele": "A",
          "start": 100813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.100589A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Asp33530Val",
        "hgvsWellDefined": "XP_016860310.1:p.Asp33530Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97856,
          "referenceAllele": "A",
          "start": 97855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.97631A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Asp32544Val",
        "hgvsWellDefined": "XP_016860311.1:p.Asp32544Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79472,
          "referenceAllele": "A",
          "start": 79471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.79247A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Asp26416Val",
        "hgvsWellDefined": "XP_016860312.1:p.Asp26416Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100967,
          "referenceAllele": "A",
          "start": 100966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.100742A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Asp33581Val",
        "hgvsWellDefined": "XP_024308862.1:p.Asp33581Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100964,
          "referenceAllele": "A",
          "start": 100963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.100739A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Asp33580Val",
        "hgvsWellDefined": "XP_024308863.1:p.Asp33580Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100397,
          "referenceAllele": "A",
          "start": 100396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.100172A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Asp33391Val",
        "hgvsWellDefined": "XP_024308864.1:p.Asp33391Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97739,
          "referenceAllele": "A",
          "start": 97738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.97514A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Asp32505Val",
        "hgvsWellDefined": "XP_024308865.1:p.Asp32505Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97658,
          "referenceAllele": "A",
          "start": 97657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.97433A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Asp32478Val",
        "hgvsWellDefined": "XP_024308866.1:p.Asp32478Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79421,
          "referenceAllele": "A",
          "start": 79420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.79196A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Asp26399Val",
        "hgvsWellDefined": "XP_024308867.1:p.Asp26399Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 69076,
          "referenceAllele": "A",
          "start": 69075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.69050A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Asp23017Val",
        "hgvsWellDefined": "XP_024308868.1:p.Asp23017Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}