{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349607666",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.48866A>G (p.Lys16289Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179479375T>C?assembly=hg19",
        "id": "chr2:g.179479375T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178614648T>C?assembly=hg38",
        "id": "chr2:g.178614648T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178614648,
          "referenceAllele": "T",
          "start": 178614647
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178614648T>C",
        "CM000664.2:g.178614648T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179479375,
          "referenceAllele": "T",
          "start": 179479374
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179479375T>C",
        "CM000664.1:g.179479375T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179187620,
          "referenceAllele": "T",
          "start": 179187619
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179187620T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 221155,
          "referenceAllele": "A",
          "start": 221154
        }
      ],
      "hgvs": [
        "NG_011618.3:g.221155A>G",
        "LRG_391:g.221155A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 96822,
          "referenceAllele": "T",
          "start": 96821
        }
      ],
      "hgvs": [
        "NG_051363.1:g.96822T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41387,
          "referenceAllele": "A",
          "start": 41386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.41162A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Lys13721Arg",
        "hgvsWellDefined": "ENSP00000343764.6:p.Lys13721Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22247,
          "referenceAllele": "A",
          "start": 22246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.22247A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Lys7416Arg",
        "hgvsWellDefined": "ENSP00000340554.6:p.Lys7416Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22046,
          "referenceAllele": "A",
          "start": 22045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.22046A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Lys7349Arg",
        "hgvsWellDefined": "ENSP00000352154.5:p.Lys7349Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22472,
          "referenceAllele": "A",
          "start": 22471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.22247A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Lys7416Arg",
        "hgvsWellDefined": "ENSP00000340554.6:p.Lys7416Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41385,
          "referenceAllele": "A",
          "start": 41384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.41162A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Lys13721Arg",
        "hgvsWellDefined": "ENSP00000343764.6:p.Lys13721Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22271,
          "referenceAllele": "A",
          "start": 22270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.22046A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Lys7349Arg",
        "hgvsWellDefined": "ENSP00000352154.5:p.Lys7349Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21896,
          "referenceAllele": "A",
          "start": 21895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.21671A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Lys7224Arg",
        "hgvsWellDefined": "ENSP00000434586.1:p.Lys7224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49091,
          "referenceAllele": "A",
          "start": 49090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.48866A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Lys16289Arg",
        "hgvsWellDefined": "ENSP00000467141.1:p.Lys16289Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48866A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48866A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Lys16289Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Lys16289Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44168,
          "referenceAllele": "A",
          "start": 44167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.43943A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Lys14648Arg",
        "hgvsWellDefined": "ENSP00000465570.1:p.Lys14648Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44168,
          "referenceAllele": "A",
          "start": 44167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.43943A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Lys14648Arg",
        "hgvsWellDefined": "ENSP00000483597.1:p.Lys14648Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44168,
          "referenceAllele": "A",
          "start": 44167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.43943A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Lys14648Arg",
        "hgvsWellDefined": "NP_001243779.1:p.Lys14648Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49091,
          "referenceAllele": "A",
          "start": 49090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.48866A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Lys16289Arg",
        "hgvsWellDefined": "NP_001254479.2:p.Lys16289Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48866A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48866A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Lys16289Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Lys16289Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21896,
          "referenceAllele": "A",
          "start": 21895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.21671A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Lys7224Arg",
        "hgvsWellDefined": "NP_003310.4:p.Lys7224Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41387,
          "referenceAllele": "A",
          "start": 41386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.41162A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Lys13721Arg",
        "hgvsWellDefined": "NP_596869.4:p.Lys13721Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22271,
          "referenceAllele": "A",
          "start": 22270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.22046A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Lys7349Arg",
        "hgvsWellDefined": "NP_597676.3:p.Lys7349Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22472,
          "referenceAllele": "A",
          "start": 22471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.22247A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Lys7416Arg",
        "hgvsWellDefined": "NP_597681.4:p.Lys7416Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "referenceAllele": "T",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.1396T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48359,
          "referenceAllele": "A",
          "start": 48358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.47963A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Lys15988Arg",
        "hgvsWellDefined": "XP_011510031.1:p.Lys15988Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22253,
          "referenceAllele": "A",
          "start": 22252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.21857A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Lys7286Arg",
        "hgvsWellDefined": "XP_011510032.1:p.Lys7286Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22112,
          "referenceAllele": "A",
          "start": 22111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.21716A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Lys7239Arg",
        "hgvsWellDefined": "XP_011510033.1:p.Lys7239Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 47984,
          "referenceAllele": "A",
          "start": 47983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.47759A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Lys15920Arg",
        "hgvsWellDefined": "XP_016860308.1:p.Lys15920Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43382,
          "referenceAllele": "A",
          "start": 43381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.43157A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Lys14386Arg",
        "hgvsWellDefined": "XP_016860309.1:p.Lys14386Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43379,
          "referenceAllele": "A",
          "start": 43378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.43154A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Lys14385Arg",
        "hgvsWellDefined": "XP_016860310.1:p.Lys14385Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40421,
          "referenceAllele": "A",
          "start": 40420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.40196A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Lys13399Arg",
        "hgvsWellDefined": "XP_016860311.1:p.Lys13399Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22037,
          "referenceAllele": "A",
          "start": 22036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.21812A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Lys7271Arg",
        "hgvsWellDefined": "XP_016860312.1:p.Lys7271Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43532,
          "referenceAllele": "A",
          "start": 43531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.43307A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Lys14436Arg",
        "hgvsWellDefined": "XP_024308862.1:p.Lys14436Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43529,
          "referenceAllele": "A",
          "start": 43528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.43304A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Lys14435Arg",
        "hgvsWellDefined": "XP_024308863.1:p.Lys14435Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42962,
          "referenceAllele": "A",
          "start": 42961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.42737A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Lys14246Arg",
        "hgvsWellDefined": "XP_024308864.1:p.Lys14246Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40304,
          "referenceAllele": "A",
          "start": 40303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.40079A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Lys13360Arg",
        "hgvsWellDefined": "XP_024308865.1:p.Lys13360Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40223,
          "referenceAllele": "A",
          "start": 40222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.39998A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Lys13333Arg",
        "hgvsWellDefined": "XP_024308866.1:p.Lys13333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21986,
          "referenceAllele": "A",
          "start": 21985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.21761A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Lys7254Arg",
        "hgvsWellDefined": "XP_024308867.1:p.Lys7254Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11641,
          "referenceAllele": "A",
          "start": 11640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.11615A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Lys3872Arg",
        "hgvsWellDefined": "XP_024308868.1:p.Lys3872Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}