{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA60987653",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.48962G>A (p.Ser16321Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179479279C>T?assembly=hg19",
        "id": "chr2:g.179479279C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178614552C>T?assembly=hg38",
        "id": "chr2:g.178614552C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/939152999",
        "rs": 939152999
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 178614552,
          "referenceAllele": "C",
          "start": 178614551
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178614552C>T",
        "CM000664.2:g.178614552C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 179479279,
          "referenceAllele": "C",
          "start": 179479278
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179479279C>T",
        "CM000664.1:g.179479279C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 179187524,
          "referenceAllele": "C",
          "start": 179187523
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179187524C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221251,
          "referenceAllele": "G",
          "start": 221250
        }
      ],
      "hgvs": [
        "NG_011618.3:g.221251G>A",
        "LRG_391:g.221251G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96726,
          "referenceAllele": "C",
          "start": 96725
        }
      ],
      "hgvs": [
        "NG_051363.1:g.96726C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41483,
          "referenceAllele": "G",
          "start": 41482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.41258G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Ser13753Asn",
        "hgvsWellDefined": "ENSP00000343764.6:p.Ser13753Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22343,
          "referenceAllele": "G",
          "start": 22342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.22343G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Ser7448Asn",
        "hgvsWellDefined": "ENSP00000340554.6:p.Ser7448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22142,
          "referenceAllele": "G",
          "start": 22141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.22142G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Ser7381Asn",
        "hgvsWellDefined": "ENSP00000352154.5:p.Ser7381Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22568,
          "referenceAllele": "G",
          "start": 22567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.22343G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Ser7448Asn",
        "hgvsWellDefined": "ENSP00000340554.6:p.Ser7448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41481,
          "referenceAllele": "G",
          "start": 41480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.41258G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Ser13753Asn",
        "hgvsWellDefined": "ENSP00000343764.6:p.Ser13753Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22367,
          "referenceAllele": "G",
          "start": 22366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.22142G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Ser7381Asn",
        "hgvsWellDefined": "ENSP00000352154.5:p.Ser7381Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21992,
          "referenceAllele": "G",
          "start": 21991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.21767G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Ser7256Asn",
        "hgvsWellDefined": "ENSP00000434586.1:p.Ser7256Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49187,
          "referenceAllele": "G",
          "start": 49186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.48962G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Ser16321Asn",
        "hgvsWellDefined": "ENSP00000467141.1:p.Ser16321Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48962G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48962G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Ser16321Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Ser16321Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44264,
          "referenceAllele": "G",
          "start": 44263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.44039G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Ser14680Asn",
        "hgvsWellDefined": "ENSP00000465570.1:p.Ser14680Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44264,
          "referenceAllele": "G",
          "start": 44263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.44039G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Ser14680Asn",
        "hgvsWellDefined": "ENSP00000483597.1:p.Ser14680Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44264,
          "referenceAllele": "G",
          "start": 44263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.44039G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Ser14680Asn",
        "hgvsWellDefined": "NP_001243779.1:p.Ser14680Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49187,
          "referenceAllele": "G",
          "start": 49186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.48962G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Ser16321Asn",
        "hgvsWellDefined": "NP_001254479.2:p.Ser16321Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48962G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48962G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Ser16321Asn"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Ser16321Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21992,
          "referenceAllele": "G",
          "start": 21991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.21767G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Ser7256Asn",
        "hgvsWellDefined": "NP_003310.4:p.Ser7256Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067169651",
      "coordinates": [
        {
          "allele": "A",
          "end": 41483,
          "referenceAllele": "G",
          "start": 41482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.41258G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Ser13753Asn",
        "hgvsWellDefined": "NP_596869.4:p.Ser13753Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22367,
          "referenceAllele": "G",
          "start": 22366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.22142G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Ser7381Asn",
        "hgvsWellDefined": "NP_597676.3:p.Ser7381Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22568,
          "referenceAllele": "G",
          "start": 22567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.22343G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Ser7448Asn",
        "hgvsWellDefined": "NP_597681.4:p.Ser7448Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.1300C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48455,
          "referenceAllele": "G",
          "start": 48454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.48059G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Ser16020Asn",
        "hgvsWellDefined": "XP_011510031.1:p.Ser16020Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22349,
          "referenceAllele": "G",
          "start": 22348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.21953G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Ser7318Asn",
        "hgvsWellDefined": "XP_011510032.1:p.Ser7318Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22208,
          "referenceAllele": "G",
          "start": 22207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.21812G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Ser7271Asn",
        "hgvsWellDefined": "XP_011510033.1:p.Ser7271Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48080,
          "referenceAllele": "G",
          "start": 48079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.47855G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Ser15952Asn",
        "hgvsWellDefined": "XP_016860308.1:p.Ser15952Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43478,
          "referenceAllele": "G",
          "start": 43477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.43253G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Ser14418Asn",
        "hgvsWellDefined": "XP_016860309.1:p.Ser14418Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43475,
          "referenceAllele": "G",
          "start": 43474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.43250G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Ser14417Asn",
        "hgvsWellDefined": "XP_016860310.1:p.Ser14417Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40517,
          "referenceAllele": "G",
          "start": 40516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.40292G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Ser13431Asn",
        "hgvsWellDefined": "XP_016860311.1:p.Ser13431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22133,
          "referenceAllele": "G",
          "start": 22132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.21908G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Ser7303Asn",
        "hgvsWellDefined": "XP_016860312.1:p.Ser7303Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43628,
          "referenceAllele": "G",
          "start": 43627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.43403G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Ser14468Asn",
        "hgvsWellDefined": "XP_024308862.1:p.Ser14468Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43625,
          "referenceAllele": "G",
          "start": 43624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.43400G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Ser14467Asn",
        "hgvsWellDefined": "XP_024308863.1:p.Ser14467Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43058,
          "referenceAllele": "G",
          "start": 43057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.42833G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Ser14278Asn",
        "hgvsWellDefined": "XP_024308864.1:p.Ser14278Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40400,
          "referenceAllele": "G",
          "start": 40399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.40175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Ser13392Asn",
        "hgvsWellDefined": "XP_024308865.1:p.Ser13392Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40319,
          "referenceAllele": "G",
          "start": 40318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.40094G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Ser13365Asn",
        "hgvsWellDefined": "XP_024308866.1:p.Ser13365Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22082,
          "referenceAllele": "G",
          "start": 22081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.21857G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Ser7286Asn",
        "hgvsWellDefined": "XP_024308867.1:p.Ser7286Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11737,
          "referenceAllele": "G",
          "start": 11736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.11711G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Ser3904Asn",
        "hgvsWellDefined": "XP_024308868.1:p.Ser3904Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}