{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349414422",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.103374C>G (p.Tyr34458Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=679373[alleleid]",
        "alleleId": 679373,
        "preferredName": "NM_001267550.2(TTN):c.103374C>G (p.Tyr34458Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/691673",
        "RCV": [
          "RCV000852485"
        ],
        "variationId": 691673
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179397968G>C?assembly=hg19",
        "id": "chr2:g.179397968G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178533241G>C?assembly=hg38",
        "id": "chr2:g.178533241G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500505",
        "rs": 1060500505
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178533241,
          "referenceAllele": "G",
          "start": 178533240
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178533241G>C",
        "CM000664.2:g.178533241G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179397968,
          "referenceAllele": "G",
          "start": 179397967
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179397968G>C",
        "CM000664.1:g.179397968G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179106214,
          "referenceAllele": "G",
          "start": 179106213
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179106214G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 302562,
          "referenceAllele": "C",
          "start": 302561
        }
      ],
      "hgvs": [
        "NG_011618.3:g.302562C>G",
        "LRG_391:g.302562C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15415,
          "referenceAllele": "G",
          "start": 15414
        }
      ],
      "hgvs": [
        "NG_051363.1:g.15415G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 95895,
          "referenceAllele": "C",
          "start": 95894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.95670C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Tyr31890Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76755,
          "referenceAllele": "C",
          "start": 76754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.76755C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Tyr25585Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76554,
          "referenceAllele": "C",
          "start": 76553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.76554C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Tyr25518Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76980,
          "referenceAllele": "C",
          "start": 76979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.76755C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Tyr25585Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 95893,
          "referenceAllele": "C",
          "start": 95892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.95670C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Tyr31890Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76779,
          "referenceAllele": "C",
          "start": 76778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.76554C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Tyr25518Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76404,
          "referenceAllele": "C",
          "start": 76403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.76179C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Tyr25393Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 103599,
          "referenceAllele": "C",
          "start": 103598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.103374C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Tyr34458Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.103374C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.103374C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Tyr34458Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Tyr34458Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98676,
          "referenceAllele": "C",
          "start": 98675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.98451C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Tyr32817Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98676,
          "referenceAllele": "C",
          "start": 98675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.98451C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Tyr32817Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98676,
          "referenceAllele": "C",
          "start": 98675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.98451C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Tyr32817Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 103599,
          "referenceAllele": "C",
          "start": 103598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.103374C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Tyr34458Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.103374C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.103374C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Tyr34458Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Tyr34458Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76404,
          "referenceAllele": "C",
          "start": 76403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.76179C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Tyr25393Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 95895,
          "referenceAllele": "C",
          "start": 95894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.95670C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Tyr31890Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76779,
          "referenceAllele": "C",
          "start": 76778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.76554C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Tyr25518Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76980,
          "referenceAllele": "C",
          "start": 76979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.76755C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Tyr25585Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "endIntronDirection": "+",
          "endIntronOffset": 9605,
          "referenceAllele": "G",
          "start": 446,
          "startIntronDirection": "+",
          "startIntronOffset": 9604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.446+9605G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 2490,
          "referenceAllele": "G",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.220-2491G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 102867,
          "referenceAllele": "C",
          "start": 102866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.102471C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Tyr34157Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76761,
          "referenceAllele": "C",
          "start": 76760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.76365C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Tyr25455Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76620,
          "referenceAllele": "C",
          "start": 76619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.76224C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Tyr25408Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 102492,
          "referenceAllele": "C",
          "start": 102491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.102267C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Tyr34089Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97890,
          "referenceAllele": "C",
          "start": 97889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.97665C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Tyr32555Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97887,
          "referenceAllele": "C",
          "start": 97886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.97662C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Tyr32554Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94929,
          "referenceAllele": "C",
          "start": 94928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.94704C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Tyr31568Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76545,
          "referenceAllele": "C",
          "start": 76544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.76320C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Tyr25440Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98040,
          "referenceAllele": "C",
          "start": 98039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.97815C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Tyr32605Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98037,
          "referenceAllele": "C",
          "start": 98036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.97812C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Tyr32604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97470,
          "referenceAllele": "C",
          "start": 97469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.97245C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Tyr32415Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94812,
          "referenceAllele": "C",
          "start": 94811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.94587C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Tyr31529Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94731,
          "referenceAllele": "C",
          "start": 94730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.94506C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Tyr31502Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76494,
          "referenceAllele": "C",
          "start": 76493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.76269C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Tyr25423Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66149,
          "referenceAllele": "C",
          "start": 66148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.66123C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Tyr22041Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}