{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129793",
  "communityStandardTitle": [
    "NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40215[alleleid]",
        "alleleId": 40215,
        "preferredName": "NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31543",
        "RCV": [
          "RCV000024250"
        ],
        "variationId": 31543
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24709875G>A?assembly=hg19",
        "id": "chr14:g.24709875G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24240669G>A?assembly=hg38",
        "id": "chr14:g.24240669G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907154",
        "rs": 387907154
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 24240669,
          "referenceAllele": "G",
          "start": 24240668
        }
      ],
      "hgvs": [
        "NC_000014.9:g.24240669G>A",
        "CM000676.2:g.24240669G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 24709875,
          "referenceAllele": "G",
          "start": 24709874
        }
      ],
      "hgvs": [
        "NC_000014.8:g.24709875G>A",
        "CM000676.1:g.24709875G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 23779715,
          "referenceAllele": "G",
          "start": 23779714
        }
      ],
      "hgvs": [
        "NC_000014.7:g.23779715G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7006,
          "referenceAllele": "C",
          "start": 7005
        }
      ],
      "hgvs": [
        "NG_016650.1:g.7006C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13253,
          "referenceAllele": "G",
          "start": 13252
        }
      ],
      "hgvs": [
        "NG_054634.1:g.13253G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557915.2:n.1114C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557921.3:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453157.3:p.Gln235Ter",
        "hgvsWellDefined": "ENSP00000453157.3:p.Gln235_Glu318delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1201,
          "referenceAllele": "C",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699682.1:n.1201C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1251,
          "referenceAllele": "C",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699683.1:n.1251C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699684.1:c.*404C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514523.1:n.*404C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699685.1:n.1015C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699686.1:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514524.1:p.Gln202Ter",
        "hgvsWellDefined": "ENSP00000514524.1:p.Gln202_Glu285delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 852,
          "referenceAllele": "C",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699687.1:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514525.1:p.Gln236Ter",
        "hgvsWellDefined": "ENSP00000514525.1:p.Gln236_Glu319delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699688.1:n.1011C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699689.1:n.1367C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699690.1:n.1564C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1708,
          "referenceAllele": "C",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699691.1:n.1708C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699693.1:n.1228C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1470,
          "referenceAllele": "C",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699694.1:n.1470C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699695.1:c.*183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514526.1:n.*183C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699696.1:n.1114C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699697.1:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514527.1:p.Gln271Ter",
        "hgvsWellDefined": "ENSP00000514527.1:p.Gln271_Arg378delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699698.1:n.732C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699699.1:n.1135C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "referenceAllele": "C",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699700.1:n.1258C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699701.1:c.*191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514528.1:n.*191C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1102,
          "referenceAllele": "C",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000267415.12:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267415.7:p.Gln271Ter",
        "hgvsWellDefined": "ENSP00000267415.7:p.Gln271_Leu451delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742990",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267415.12:c.811C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001099274.3:c.811C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267415.7:p.Gln271Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001092744.1:p.Gln271Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557921.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453157.2:p.Gln235Ter",
        "hgvsWellDefined": "ENSP00000453157.2:p.Gln235Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000646753.1:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494065.1:p.Gln236Ter",
        "hgvsWellDefined": "ENSP00000494065.1:p.Gln236_Leu416delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000267415.11:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267415.7:p.Gln271Ter",
        "hgvsWellDefined": "ENSP00000267415.7:p.Gln271_Leu451delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000399423.8:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382350.4:p.Gln271Ter",
        "hgvsWellDefined": "ENSP00000382350.4:p.Gln271_Glu354delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 828,
          "referenceAllele": "C",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000558476.5:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452724.1:p.Gln125Ter",
        "hgvsWellDefined": "ENSP00000452724.1:p.Gln125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "C",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000558566.1:c.*183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453025.1:n.*183C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559019.1:c.*183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453675.1:n.*183C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559549.1:n.537C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 757,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559969.5:c.757+10C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000626689.2:c.*183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486681.1:n.*183C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406771"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129794",
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.1:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Gln271Ter",
        "hgvsWellDefined": "NP_001092744.1:p.Gln271_Leu451delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493055",
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_012461.2:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036593.2:p.Gln271Ter",
        "hgvsWellDefined": "NP_036593.2:p.Gln271_Glu354delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_005267528.2:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267585.1:p.Gln271Ter",
        "hgvsWellDefined": "XP_005267585.1:p.Gln271_His435delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysValThrSerCysTrpCysSerGlyThrGlySerArgHisGluArgThrMetLysLysLeuAspGlyAlaCysValSerLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_005267529.2:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267586.1:p.Gln236Ter",
        "hgvsWellDefined": "XP_005267586.1:p.Gln236_Leu416delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129794",
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.2:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Gln271Ter",
        "hgvsWellDefined": "NP_001092744.1:p.Gln271_Leu451delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828102061",
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001363668.1:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350597.1:p.Gln236Ter",
        "hgvsWellDefined": "NP_001350597.1:p.Gln236_Leu416delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493055",
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_012461.3:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036593.2:p.Gln271Ter",
        "hgvsWellDefined": "NP_036593.2:p.Gln271_Glu354delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_011536642.2:c.*191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534944.1:n.*191C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_017021216.2:c.169C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876705.1:p.Gln57Ter",
        "hgvsWellDefined": "XP_016876705.1:p.Gln57_Leu237delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_017021217.1:c.169C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876706.1:p.Gln57Ter",
        "hgvsWellDefined": "XP_016876706.1:p.Gln57_Leu237delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129794",
      "coordinates": [
        {
          "allele": "T",
          "end": 1102,
          "referenceAllele": "C",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.3:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Gln271Ter",
        "hgvsWellDefined": "NP_001092744.1:p.Gln271_Leu451delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267415.12:c.811C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001099274.3:c.811C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267415.7:p.Gln271Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001092744.1:p.Gln271Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828102061",
      "coordinates": [
        {
          "allele": "T",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001363668.2:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350597.1:p.Gln236Ter",
        "hgvsWellDefined": "NP_001350597.1:p.Gln236_Leu416delinsTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690732"
    }
  ],
  "type": "nucleotide"
}