{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA71530976",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.1330C>T (p.Gln444Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2739024[alleleid]",
        "alleleId": 2739024,
        "preferredName": "NM_003242.6(TGFBR2):c.1330C>T (p.Gln444Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2574078",
        "RCV": [
          "RCV003485898"
        ],
        "variationId": 2574078
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30715672C>T?assembly=hg19",
        "id": "chr3:g.30715672C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30674180C>T?assembly=hg38",
        "id": "chr3:g.30674180C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758294183",
        "rs": 758294183
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30674180,
          "referenceAllele": "C",
          "start": 30674179
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30674180C>T",
        "CM000665.2:g.30674180C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30715672,
          "referenceAllele": "C",
          "start": 30715671
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30715672C>T",
        "CM000665.1:g.30715672C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 30690676,
          "referenceAllele": "C",
          "start": 30690675
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30690676C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72679,
          "referenceAllele": "C",
          "start": 72678
        }
      ],
      "hgvs": [
        "NG_007490.1:g.72679C>T",
        "LRG_779:g.72679C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Gln444Ter",
        "hgvsWellDefined": "ENSP00000295754.5:p.Gln444_Lys567delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Gln444Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Gln444Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2926,
          "referenceAllele": "C",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.2926C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000673203.1:n.208C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1712,
          "referenceAllele": "C",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Gln444Ter",
        "hgvsWellDefined": "ENSP00000295754.5:p.Gln444_Lys567delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Gln469Ter",
        "hgvsWellDefined": "ENSP00000351905.4:p.Gln469_Lys592delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825336820",
      "coordinates": [
        {
          "allele": "T",
          "end": 1787,
          "referenceAllele": "C",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.1405C>T",
        "LRG_779t1:c.1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Gln469Ter",
        "hgvsWellDefined": "NP_001020018.1:p.Gln469_Lys592delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426375",
      "coordinates": [
        {
          "allele": "T",
          "end": 1712,
          "referenceAllele": "C",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Gln444Ter",
        "hgvsWellDefined": "NP_003233.4:p.Gln444_Lys567delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1449,
          "referenceAllele": "C",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.1357C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Gln453Ter",
        "hgvsWellDefined": "XP_011532345.1:p.Gln453_Lys576delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1297,
          "referenceAllele": "C",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.1282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Gln428Ter",
        "hgvsWellDefined": "XP_011532346.1:p.Gln428_Lys551delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1337,
          "referenceAllele": "C",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.1225C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Gln409Ter",
        "hgvsWellDefined": "XP_011532347.1:p.Gln409_Lys532delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1560,
          "referenceAllele": "C",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.1357C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Gln453Ter",
        "hgvsWellDefined": "XP_011532345.1:p.Gln453_Lys576delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.1225C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Gln409Ter",
        "hgvsWellDefined": "XP_011532347.1:p.Gln409_Lys532delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2926,
          "referenceAllele": "C",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.1225C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Gln409Ter",
        "hgvsWellDefined": "XP_016862595.1:p.Gln409_Lys532delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426375",
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Gln444Ter",
        "hgvsWellDefined": "NP_003233.4:p.Gln444_Lys567delinsThrAspValTyrSerMetAlaLeuValLeuTrpGluMetThrSerArgCysAsnAlaValGlyGluValLysAspTyrGluProProPheGlySerLysValArgGluHisProCysValGluSerMetLysAspAsnValLeuArgAspArgGlyArgProGluIleProSerPheTrpLeuAsnHisGlnGlyIleGlnMetValCysGluThrLeuThrGluCysTrpAspHisAspProGluAlaArgLeuThrAlaGlnCysValAlaGluArgPheSerGluLeuGluHisLeuAspArgLeuSerGlyArgSerCysSerGluGluLysIleProGluAspGlySerLeuAsnThrThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Gln444Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Gln444Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}