{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA020690",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=20398",
        "active": true,
        "id": "COSM20398"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3392340",
        "active": true,
        "id": "COSM3392340"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27558[alleleid]",
        "alleleId": 27558,
        "preferredName": "NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12519",
        "RCV": [
          "RCV000013344",
          "RCV000195964",
          "RCV000157519",
          "RCV000253575",
          "RCV000763512"
        ],
        "variationId": 12519
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30729962C>T?assembly=hg19",
        "id": "chr3:g.30729962C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30688470C>T?assembly=hg38",
        "id": "chr3:g.30688470C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893819",
        "rs": 104893819
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30688470,
          "referenceAllele": "C",
          "start": 30688469
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30688470C>T",
        "CM000665.2:g.30688470C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30729962,
          "referenceAllele": "C",
          "start": 30729961
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30729962C>T",
        "CM000665.1:g.30729962C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30704966,
          "referenceAllele": "C",
          "start": 30704965
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30704966C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86969,
          "referenceAllele": "C",
          "start": 86968
        }
      ],
      "hgvs": [
        "NG_007490.1:g.86969C>T",
        "LRG_779:g.86969C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1766,
          "referenceAllele": "C",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.1483C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Arg495Ter",
        "hgvsWellDefined": "ENSP00000295754.5:p.Arg495_Lys567delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1483C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1483C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Arg495Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Arg495Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672050.1:n.367C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3079,
          "referenceAllele": "C",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.3079C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "C",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000673203.1:n.361C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1865,
          "referenceAllele": "C",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.1483C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Arg495Ter",
        "hgvsWellDefined": "ENSP00000295754.5:p.Arg495_Lys567delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.1558C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Arg520Ter",
        "hgvsWellDefined": "ENSP00000351905.4:p.Arg520_Lys592delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281643",
      "coordinates": [
        {
          "allele": "T",
          "end": 1940,
          "referenceAllele": "C",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.1558C>T",
        "LRG_779t1:c.1558C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Arg520Ter",
        "hgvsWellDefined": "NP_001020018.1:p.Arg520_Lys592delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281642",
      "coordinates": [
        {
          "allele": "T",
          "end": 1865,
          "referenceAllele": "C",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.1483C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Arg495Ter",
        "hgvsWellDefined": "NP_003233.4:p.Arg495_Lys567delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Arg504Ter",
        "hgvsWellDefined": "XP_011532345.1:p.Arg504_Lys576delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.1435C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Arg479Ter",
        "hgvsWellDefined": "XP_011532346.1:p.Arg479_Lys551delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Arg460Ter",
        "hgvsWellDefined": "XP_011532347.1:p.Arg460_Lys532delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1713,
          "referenceAllele": "C",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.1510C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Arg504Ter",
        "hgvsWellDefined": "XP_011532345.1:p.Arg504_Lys576delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Arg460Ter",
        "hgvsWellDefined": "XP_011532347.1:p.Arg460_Lys532delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3079,
          "referenceAllele": "C",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Arg460Ter",
        "hgvsWellDefined": "XP_016862595.1:p.Arg460_Lys532delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281642",
      "coordinates": [
        {
          "allele": "T",
          "end": 1766,
          "referenceAllele": "C",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.1483C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Arg495Ter",
        "hgvsWellDefined": "NP_003233.4:p.Arg495_Lys567delinsGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1483C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1483C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Arg495Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Arg495Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}