{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257880956",
  "communityStandardTitle": [
    "NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=936593[alleleid]",
        "alleleId": 936593,
        "preferredName": "NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/942655",
        "RCV": [
          "RCV001212678",
          "RCV001780129",
          "RCV003405398"
        ],
        "variationId": 942655
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24709893G>A?assembly=hg19",
        "id": "chr14:g.24709893G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24240687G>A?assembly=hg38",
        "id": "chr14:g.24240687G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200320654",
        "rs": 200320654
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24709893-G-A?dataset=gnomad_r2_1",
        "id": "14-24709893-G-A",
        "variant": "14:24709893 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24240687-G-A?dataset=gnomad_r3",
        "id": "14-24240687-G-A",
        "variant": "14:24240687 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24240687-G-A?dataset=gnomad_r4",
        "id": "14-24240687-G-A",
        "variant": "14:24240687 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 24240687,
          "referenceAllele": "G",
          "start": 24240686
        }
      ],
      "hgvs": [
        "NC_000014.9:g.24240687G>A",
        "CM000676.2:g.24240687G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 24709893,
          "referenceAllele": "G",
          "start": 24709892
        }
      ],
      "hgvs": [
        "NC_000014.8:g.24709893G>A",
        "CM000676.1:g.24709893G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 23779733,
          "referenceAllele": "G",
          "start": 23779732
        }
      ],
      "hgvs": [
        "NC_000014.7:g.23779733G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6988,
          "referenceAllele": "C",
          "start": 6987
        }
      ],
      "hgvs": [
        "NG_016650.1:g.6988C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13271,
          "referenceAllele": "G",
          "start": 13270
        }
      ],
      "hgvs": [
        "NG_054634.1:g.13271G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "C",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557915.2:n.1096C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557921.3:c.685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453157.3:p.Arg229Ter",
        "hgvsWellDefined": "ENSP00000453157.3:p.Arg231_Glu318delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699682.1:n.1183C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699683.1:n.1233C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "C",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699684.1:c.*386C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514523.1:n.*386C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699685.1:n.997C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "C",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699686.1:c.586C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514524.1:p.Arg196Ter",
        "hgvsWellDefined": "ENSP00000514524.1:p.Arg198_Glu285delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699687.1:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514525.1:p.Arg230Ter",
        "hgvsWellDefined": "ENSP00000514525.1:p.Arg232_Glu319delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699688.1:n.993C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699689.1:n.1349C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699690.1:n.1546C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699691.1:n.1690C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699693.1:n.1210C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699694.1:n.1452C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699695.1:c.*165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514526.1:n.*165C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "C",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699696.1:n.1096C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "C",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699697.1:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514527.1:p.Arg265Ter",
        "hgvsWellDefined": "ENSP00000514527.1:p.Arg267_Arg378delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699698.1:n.714C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699699.1:n.1117C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699700.1:n.1240C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699701.1:c.*173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514528.1:n.*173C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000267415.12:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267415.7:p.Arg265Ter",
        "hgvsWellDefined": "ENSP00000267415.7:p.Arg267_Leu451delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742990",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267415.12:c.793C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001099274.3:c.793C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267415.7:p.Arg265Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001092744.1:p.Arg265Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557921.2:c.685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453157.2:p.Arg229Ter",
        "hgvsWellDefined": "ENSP00000453157.2:p.Arg229Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000646753.1:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494065.1:p.Arg230Ter",
        "hgvsWellDefined": "ENSP00000494065.1:p.Arg232_Leu416delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000267415.11:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267415.7:p.Arg265Ter",
        "hgvsWellDefined": "ENSP00000267415.7:p.Arg267_Leu451delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000399423.8:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382350.4:p.Arg265Ter",
        "hgvsWellDefined": "ENSP00000382350.4:p.Arg267_Glu354delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000558476.5:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452724.1:p.Arg119Ter",
        "hgvsWellDefined": "ENSP00000452724.1:p.Arg119Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "C",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000558566.1:c.*165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453025.1:n.*165C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559019.1:c.*165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453675.1:n.*165C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559549.1:n.519C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "C",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559969.5:c.749C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 930,
          "referenceAllele": "C",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000626689.2:c.*165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486681.1:n.*165C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406771"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825535750",
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.1:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Arg265Ter",
        "hgvsWellDefined": "NP_001092744.1:p.Arg267_Leu451delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139722547",
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_012461.2:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036593.2:p.Arg265Ter",
        "hgvsWellDefined": "NP_036593.2:p.Arg267_Glu354delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_005267528.2:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267585.1:p.Arg265Ter",
        "hgvsWellDefined": "XP_005267585.1:p.Arg267_His435delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysValThrSerCysTrpCysSerGlyThrGlySerArgHisGluArgThrMetLysLysLeuAspGlyAlaCysValSerLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_005267529.2:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267586.1:p.Arg230Ter",
        "hgvsWellDefined": "XP_005267586.1:p.Arg232_Leu416delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825535750",
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.2:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Arg265Ter",
        "hgvsWellDefined": "NP_001092744.1:p.Arg267_Leu451delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828102054",
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001363668.1:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350597.1:p.Arg230Ter",
        "hgvsWellDefined": "NP_001350597.1:p.Arg232_Leu416delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139722547",
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_012461.3:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036593.2:p.Arg265Ter",
        "hgvsWellDefined": "NP_036593.2:p.Arg267_Glu354delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_011536642.2:c.*173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534944.1:n.*173C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_017021216.2:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876705.1:p.Arg51Ter",
        "hgvsWellDefined": "XP_016876705.1:p.Arg53_Leu237delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 259,
          "referenceAllele": "C",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_017021217.1:c.151C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876706.1:p.Arg51Ter",
        "hgvsWellDefined": "XP_016876706.1:p.Arg53_Leu237delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825535750",
      "coordinates": [
        {
          "allele": "T",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.3:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Arg265Ter",
        "hgvsWellDefined": "NP_001092744.1:p.Arg267_Leu451delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267415.12:c.793C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001099274.3:c.793C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267415.7:p.Arg265Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001092744.1:p.Arg265Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828102054",
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001363668.2:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350597.1:p.Arg230Ter",
        "hgvsWellDefined": "NP_001350597.1:p.Arg232_Leu416delinsValGlnSerGlnTrpAlaSerThrArgGlyGlyHisLysGluArgProThrValMetLeuPheProPheArgAsnLeuGlySerProThrGlnValIleSerLysProGluSerLysGluGluHisAlaIleTyrThrAlaAspLeuAlaMetGlyThrArgAlaAlaSerThrGlyLysSerLysSerProCysGlnThrLeuGlyGlyArgAlaLeuLysGluAsnProValAspLeuProAlaThrGluGlnLysGluAsnCysLeuAspCysTyrMetAspProLeuArgLeuSerLeuLeuProProArgAlaArgLysProValCysProProSerLeuCysSerSerValIleThrIleGlyAspLeuValLeuAspSerAspGluGluGluAsnGlyGlnGlyGluGlyLysGluSerLeuGluAsnTyrGlnLysThrLysPheAspThrLeuIleProThrLeuCysGluTyrLeuProProSerGlyHisGlyAlaIleProValSerSerCysAspCysArgAspSerSerArgProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690732"
    }
  ],
  "type": "nucleotide"
}