{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349607701",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.48857C>G (p.Pro16286Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179479384G>C?assembly=hg19",
        "id": "chr2:g.179479384G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178614657G>C?assembly=hg38",
        "id": "chr2:g.178614657G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178614657,
          "referenceAllele": "G",
          "start": 178614656
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178614657G>C",
        "CM000664.2:g.178614657G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179479384,
          "referenceAllele": "G",
          "start": 179479383
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179479384G>C",
        "CM000664.1:g.179479384G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179187629,
          "referenceAllele": "G",
          "start": 179187628
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179187629G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 221146,
          "referenceAllele": "C",
          "start": 221145
        }
      ],
      "hgvs": [
        "NG_011618.3:g.221146C>G",
        "LRG_391:g.221146C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 96831,
          "referenceAllele": "G",
          "start": 96830
        }
      ],
      "hgvs": [
        "NG_051363.1:g.96831G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41378,
          "referenceAllele": "C",
          "start": 41377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.41153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Pro13718Arg",
        "hgvsWellDefined": "ENSP00000343764.6:p.Pro13718Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22238,
          "referenceAllele": "C",
          "start": 22237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.22238C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Pro7413Arg",
        "hgvsWellDefined": "ENSP00000340554.6:p.Pro7413Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22037,
          "referenceAllele": "C",
          "start": 22036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.22037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Pro7346Arg",
        "hgvsWellDefined": "ENSP00000352154.5:p.Pro7346Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22463,
          "referenceAllele": "C",
          "start": 22462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.22238C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Pro7413Arg",
        "hgvsWellDefined": "ENSP00000340554.6:p.Pro7413Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41376,
          "referenceAllele": "C",
          "start": 41375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.41153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Pro13718Arg",
        "hgvsWellDefined": "ENSP00000343764.6:p.Pro13718Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22262,
          "referenceAllele": "C",
          "start": 22261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.22037C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Pro7346Arg",
        "hgvsWellDefined": "ENSP00000352154.5:p.Pro7346Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21887,
          "referenceAllele": "C",
          "start": 21886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.21662C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Pro7221Arg",
        "hgvsWellDefined": "ENSP00000434586.1:p.Pro7221Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49082,
          "referenceAllele": "C",
          "start": 49081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.48857C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Pro16286Arg",
        "hgvsWellDefined": "ENSP00000467141.1:p.Pro16286Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48857C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48857C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Pro16286Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Pro16286Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44159,
          "referenceAllele": "C",
          "start": 44158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.43934C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Pro14645Arg",
        "hgvsWellDefined": "ENSP00000465570.1:p.Pro14645Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44159,
          "referenceAllele": "C",
          "start": 44158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.43934C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Pro14645Arg",
        "hgvsWellDefined": "ENSP00000483597.1:p.Pro14645Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44159,
          "referenceAllele": "C",
          "start": 44158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.43934C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Pro14645Arg",
        "hgvsWellDefined": "NP_001243779.1:p.Pro14645Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49082,
          "referenceAllele": "C",
          "start": 49081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.48857C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Pro16286Arg",
        "hgvsWellDefined": "NP_001254479.2:p.Pro16286Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48857C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48857C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Pro16286Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Pro16286Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21887,
          "referenceAllele": "C",
          "start": 21886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.21662C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Pro7221Arg",
        "hgvsWellDefined": "NP_003310.4:p.Pro7221Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41378,
          "referenceAllele": "C",
          "start": 41377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.41153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Pro13718Arg",
        "hgvsWellDefined": "NP_596869.4:p.Pro13718Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22262,
          "referenceAllele": "C",
          "start": 22261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.22037C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Pro7346Arg",
        "hgvsWellDefined": "NP_597676.3:p.Pro7346Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22463,
          "referenceAllele": "C",
          "start": 22462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.22238C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Pro7413Arg",
        "hgvsWellDefined": "NP_597681.4:p.Pro7413Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.1405G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48350,
          "referenceAllele": "C",
          "start": 48349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.47954C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Pro15985Arg",
        "hgvsWellDefined": "XP_011510031.1:p.Pro15985Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22244,
          "referenceAllele": "C",
          "start": 22243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.21848C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Pro7283Arg",
        "hgvsWellDefined": "XP_011510032.1:p.Pro7283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22103,
          "referenceAllele": "C",
          "start": 22102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.21707C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Pro7236Arg",
        "hgvsWellDefined": "XP_011510033.1:p.Pro7236Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 47975,
          "referenceAllele": "C",
          "start": 47974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.47750C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Pro15917Arg",
        "hgvsWellDefined": "XP_016860308.1:p.Pro15917Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43373,
          "referenceAllele": "C",
          "start": 43372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.43148C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Pro14383Arg",
        "hgvsWellDefined": "XP_016860309.1:p.Pro14383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43370,
          "referenceAllele": "C",
          "start": 43369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.43145C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Pro14382Arg",
        "hgvsWellDefined": "XP_016860310.1:p.Pro14382Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40412,
          "referenceAllele": "C",
          "start": 40411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.40187C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Pro13396Arg",
        "hgvsWellDefined": "XP_016860311.1:p.Pro13396Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22028,
          "referenceAllele": "C",
          "start": 22027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.21803C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Pro7268Arg",
        "hgvsWellDefined": "XP_016860312.1:p.Pro7268Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43523,
          "referenceAllele": "C",
          "start": 43522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.43298C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Pro14433Arg",
        "hgvsWellDefined": "XP_024308862.1:p.Pro14433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43520,
          "referenceAllele": "C",
          "start": 43519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.43295C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Pro14432Arg",
        "hgvsWellDefined": "XP_024308863.1:p.Pro14432Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42953,
          "referenceAllele": "C",
          "start": 42952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.42728C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Pro14243Arg",
        "hgvsWellDefined": "XP_024308864.1:p.Pro14243Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40295,
          "referenceAllele": "C",
          "start": 40294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.40070C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Pro13357Arg",
        "hgvsWellDefined": "XP_024308865.1:p.Pro13357Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40214,
          "referenceAllele": "C",
          "start": 40213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.39989C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Pro13330Arg",
        "hgvsWellDefined": "XP_024308866.1:p.Pro13330Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21977,
          "referenceAllele": "C",
          "start": 21976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.21752C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Pro7251Arg",
        "hgvsWellDefined": "XP_024308867.1:p.Pro7251Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11632,
          "referenceAllele": "C",
          "start": 11631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.11606C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Pro3869Arg",
        "hgvsWellDefined": "XP_024308868.1:p.Pro3869Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}