{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351809561",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=84785",
        "active": true,
        "id": "COSM84785"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2418066[alleleid]",
        "alleleId": 2418066,
        "preferredName": "NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2444333",
        "RCV": [
          "RCV003153131"
        ],
        "variationId": 2444333
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30732949G>A?assembly=hg19",
        "id": "chr3:g.30732949G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30691457G>A?assembly=hg38",
        "id": "chr3:g.30691457G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2125455206",
        "rs": 2125455206
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30691457,
          "referenceAllele": "G",
          "start": 30691456
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30691457G>A",
        "CM000665.2:g.30691457G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30732949,
          "referenceAllele": "G",
          "start": 30732948
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30732949G>A",
        "CM000665.1:g.30732949G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30707953,
          "referenceAllele": "G",
          "start": 30707952
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30707953G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89956,
          "referenceAllele": "G",
          "start": 89955
        }
      ],
      "hgvs": [
        "NG_007490.1:g.89956G>A",
        "LRG_779:g.89956G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1845,
          "referenceAllele": "G",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.1562G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Trp521Ter",
        "hgvsWellDefined": "ENSP00000295754.5:p.Trp521_Lys567delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1562G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1562G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Trp521Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Trp521Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672050.1:n.446G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3158,
          "referenceAllele": "G",
          "start": 3157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.3158G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000673203.1:n.440G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1944,
          "referenceAllele": "G",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.1562G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Trp521Ter",
        "hgvsWellDefined": "ENSP00000295754.5:p.Trp521_Lys567delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1920,
          "referenceAllele": "G",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.1637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Trp546Ter",
        "hgvsWellDefined": "ENSP00000351905.4:p.Trp546_Lys592delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658800634",
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "referenceAllele": "G",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.1637G>A",
        "LRG_779t1:c.1637G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Trp546Ter",
        "hgvsWellDefined": "NP_001020018.1:p.Trp546_Lys592delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1944,
          "referenceAllele": "G",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.1562G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Trp521Ter",
        "hgvsWellDefined": "NP_003233.4:p.Trp521_Lys567delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1681,
          "referenceAllele": "G",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.1589G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Trp530Ter",
        "hgvsWellDefined": "XP_011532345.1:p.Trp530_Lys576delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.1514G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Trp505Ter",
        "hgvsWellDefined": "XP_011532346.1:p.Trp505_Lys551delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.1457G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Trp486Ter",
        "hgvsWellDefined": "XP_011532347.1:p.Trp486_Lys532delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1792,
          "referenceAllele": "G",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.1589G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Trp530Ter",
        "hgvsWellDefined": "XP_011532345.1:p.Trp530_Lys576delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1590,
          "referenceAllele": "G",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.1457G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Trp486Ter",
        "hgvsWellDefined": "XP_011532347.1:p.Trp486_Lys532delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3158,
          "referenceAllele": "G",
          "start": 3157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.1457G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Trp486Ter",
        "hgvsWellDefined": "XP_016862595.1:p.Trp486_Lys532delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1845,
          "referenceAllele": "G",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.1562G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Trp521Ter",
        "hgvsWellDefined": "NP_003233.4:p.Trp521_Lys567delinsAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1562G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1562G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Trp521Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Trp521Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}