{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA090410",
  "communityStandardTitle": [
    "NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27454[alleleid]",
        "alleleId": 27454,
        "preferredName": "NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12415",
        "RCV": [
          "RCV000013226",
          "RCV000524541",
          "RCV000588329",
          "RCV000030567",
          "RCV000159291",
          "RCV003450631",
          "RCV003450630"
        ],
        "variationId": 12415
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-201333494-G-A",
        "id": "1-201333494-G-A",
        "variant": "1:201333494 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201333494G>A?assembly=hg19",
        "id": "chr1:g.201333494G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201364366G>A?assembly=hg38",
        "id": "chr1:g.201364366G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315380",
        "rs": 74315380
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-201364366-G-A?dataset=gnomad_r4",
        "id": "1-201364366-G-A",
        "variant": "1:201364366 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 201364366,
          "referenceAllele": "G",
          "start": 201364365
        }
      ],
      "hgvs": [
        "NC_000001.11:g.201364366G>A",
        "CM000663.2:g.201364366G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 201333494,
          "referenceAllele": "G",
          "start": 201333493
        }
      ],
      "hgvs": [
        "NC_000001.10:g.201333494G>A",
        "CM000663.1:g.201333494G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 199600117,
          "referenceAllele": "G",
          "start": 199600116
        }
      ],
      "hgvs": [
        "NC_000001.9:g.199600117G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18312,
          "referenceAllele": "C",
          "start": 18311
        }
      ],
      "hgvs": [
        "NG_007556.1:g.18312C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000646"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000455702.7:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402238.3:p.Arg136Trp",
        "hgvsWellDefined": "ENSP00000402238.3:p.Arg136Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000367318.10:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356287.5:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000356287.5:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000367322.6:c.388C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356291.2:p.Arg130Trp",
        "hgvsWellDefined": "ENSP00000356291.2:p.Arg130Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 449,
          "referenceAllele": "C",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000412633.3:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408731.2:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000408731.2:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000422165.6:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395163.2:p.Arg141Trp",
        "hgvsWellDefined": "ENSP00000395163.2:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000438742.6:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414036.2:p.Arg125Trp",
        "hgvsWellDefined": "ENSP00000414036.2:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000455702.6:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402238.2:p.Arg136Trp",
        "hgvsWellDefined": "ENSP00000402238.2:p.Arg136Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000651504.1:n.885C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000656932.1:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499593.1:p.Arg141Trp",
        "hgvsWellDefined": "ENSP00000499593.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772560",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000656932.1:c.421C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001276345.2:c.421C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000499593.1:p.Arg141Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001263274.1:p.Arg141Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000658476.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499741.1:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000499741.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000660295.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499418.1:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000499418.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 2366,
          "referenceAllele": "C",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000662159.1:c.163-2367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499796.1:n.163-2367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000663843.1:c.*321C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499590.1:n.*321C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000666449.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499667.1:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000499667.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "referenceAllele": "C",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000236918.11:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236918.8:p.Arg141Trp",
        "hgvsWellDefined": "ENSP00000236918.8:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000360372.8:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353535.5:p.Arg101Trp",
        "hgvsWellDefined": "ENSP00000353535.5:p.Arg101Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "referenceAllele": "C",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000367315.6:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356284.3:p.Arg133Trp",
        "hgvsWellDefined": "ENSP00000356284.3:p.Arg133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000367317.8:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356286.5:p.Arg126Trp",
        "hgvsWellDefined": "ENSP00000356286.5:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "referenceAllele": "C",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000367318.9:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356287.5:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000356287.5:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000367320.6:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356289.2:p.Arg101Trp",
        "hgvsWellDefined": "ENSP00000356289.2:p.Arg101Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000367322.5:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356291.1:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000356291.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000421663.6:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404134.3:p.Arg72Trp",
        "hgvsWellDefined": "ENSP00000404134.3:p.Arg72Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000438742.5:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414036.1:p.Arg126Trp",
        "hgvsWellDefined": "ENSP00000414036.1:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000455702.5:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402238.1:p.Arg141Trp",
        "hgvsWellDefined": "ENSP00000402238.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000458432.6:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387874.3:p.Arg72Trp",
        "hgvsWellDefined": "ENSP00000387874.3:p.Arg72Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000466570.5:n.647C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1630,
          "referenceAllele": "C",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000491504.5:n.1630C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000503459.1:n.260C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000509001.5:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422031.1:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000422031.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "referenceAllele": "C",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "ENST00000515042.5:n.317C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256447",
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_000364.3:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000355.2:p.Arg141Trp",
        "hgvsWellDefined": "NP_000355.2:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256446",
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001001430.2:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001430.1:p.Arg131Trp",
        "hgvsWellDefined": "NP_001001430.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA501233",
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001001431.2:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001431.1:p.Arg131Trp",
        "hgvsWellDefined": "NP_001001431.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256445",
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001001432.2:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001432.1:p.Arg126Trp",
        "hgvsWellDefined": "NP_001001432.1:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113363",
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001276345.1:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263274.1:p.Arg141Trp",
        "hgvsWellDefined": "NP_001263274.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020876"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826554779",
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "C",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001276346.1:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263275.1:p.Arg101Trp",
        "hgvsWellDefined": "NP_001263275.1:p.Arg101Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826555288",
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001276347.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263276.1:p.Arg131Trp",
        "hgvsWellDefined": "NP_001263276.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_006711508.2:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711571.1:p.Arg131Trp",
        "hgvsWellDefined": "XP_006711571.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_006711509.2:c.388C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711572.1:p.Arg130Trp",
        "hgvsWellDefined": "XP_006711572.1:p.Arg130Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509938.1:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508240.1:p.Arg141Trp",
        "hgvsWellDefined": "XP_011508240.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509939.1:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508241.1:p.Arg140Trp",
        "hgvsWellDefined": "XP_011508241.1:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509940.1:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508242.1:p.Arg141Trp",
        "hgvsWellDefined": "XP_011508242.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509941.1:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508243.1:p.Arg140Trp",
        "hgvsWellDefined": "XP_011508243.1:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509942.1:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508244.1:p.Arg126Trp",
        "hgvsWellDefined": "XP_011508244.1:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509943.1:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508245.1:p.Arg126Trp",
        "hgvsWellDefined": "XP_011508245.1:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509944.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508246.1:p.Arg125Trp",
        "hgvsWellDefined": "XP_011508246.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "C",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509945.1:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508247.1:p.Arg141Trp",
        "hgvsWellDefined": "XP_011508247.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509946.1:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508248.1:p.Arg72Trp",
        "hgvsWellDefined": "XP_011508248.1:p.Arg72Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_006711508.3:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711571.1:p.Arg131Trp",
        "hgvsWellDefined": "XP_006711571.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_006711509.3:c.388C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711572.1:p.Arg130Trp",
        "hgvsWellDefined": "XP_006711572.1:p.Arg130Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 545,
          "referenceAllele": "C",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509938.2:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508240.1:p.Arg141Trp",
        "hgvsWellDefined": "XP_011508240.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509940.2:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508242.1:p.Arg141Trp",
        "hgvsWellDefined": "XP_011508242.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509941.2:c.418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508243.1:p.Arg140Trp",
        "hgvsWellDefined": "XP_011508243.1:p.Arg140Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509942.2:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508244.1:p.Arg126Trp",
        "hgvsWellDefined": "XP_011508244.1:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "C",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509943.2:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508245.1:p.Arg126Trp",
        "hgvsWellDefined": "XP_011508245.1:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_011509944.2:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508246.1:p.Arg125Trp",
        "hgvsWellDefined": "XP_011508246.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_017002216.2:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857705.1:p.Arg131Trp",
        "hgvsWellDefined": "XP_016857705.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_017002217.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857706.1:p.Arg131Trp",
        "hgvsWellDefined": "XP_016857706.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_024449450.1:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305218.1:p.Arg141Trp",
        "hgvsWellDefined": "XP_024305218.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_024449454.1:c.388C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305222.1:p.Arg130Trp",
        "hgvsWellDefined": "XP_024305222.1:p.Arg130Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "XM_024449455.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305223.1:p.Arg131Trp",
        "hgvsWellDefined": "XP_024305223.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256447",
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_000364.4:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000355.2:p.Arg141Trp",
        "hgvsWellDefined": "NP_000355.2:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256446",
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001001430.3:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001430.1:p.Arg131Trp",
        "hgvsWellDefined": "NP_001001430.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA501233",
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001001431.3:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001431.1:p.Arg131Trp",
        "hgvsWellDefined": "NP_001001431.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256445",
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "C",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001001432.3:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001001432.1:p.Arg126Trp",
        "hgvsWellDefined": "NP_001001432.1:p.Arg126Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675013"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113363",
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001276345.2:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263274.1:p.Arg141Trp",
        "hgvsWellDefined": "NP_001263274.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000656932.1:c.421C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001276345.2:c.421C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000499593.1:p.Arg141Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001263274.1:p.Arg141Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826554779",
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001276346.2:c.301C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263275.1:p.Arg101Trp",
        "hgvsWellDefined": "NP_001263275.1:p.Arg101Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681302"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826555288",
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011949",
      "geneNCBI_id": 7139,
      "geneSymbol": "TNNT2",
      "hgvs": [
        "NM_001276347.2:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263276.1:p.Arg131Trp",
        "hgvsWellDefined": "NP_001263276.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681303"
    }
  ],
  "type": "nucleotide"
}