{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351809034",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1691864[alleleid]",
        "alleleId": 1691864,
        "preferredName": "NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1699490",
        "RCV": [
          "RCV002273347"
        ],
        "variationId": 1699490
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30715673A>C?assembly=hg19",
        "id": "chr3:g.30715673A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30674181A>C?assembly=hg38",
        "id": "chr3:g.30674181A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2125439099",
        "rs": 2125439099
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 30674181,
          "referenceAllele": "A",
          "start": 30674180
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30674181A>C",
        "CM000665.2:g.30674181A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 30715673,
          "referenceAllele": "A",
          "start": 30715672
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30715673A>C",
        "CM000665.1:g.30715673A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 30690677,
          "referenceAllele": "A",
          "start": 30690676
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30690677A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72680,
          "referenceAllele": "A",
          "start": 72679
        }
      ],
      "hgvs": [
        "NG_007490.1:g.72680A>C",
        "LRG_779:g.72680A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1614,
          "referenceAllele": "A",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.1331A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Gln444Pro",
        "hgvsWellDefined": "ENSP00000295754.5:p.Gln444Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1331A>C"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1331A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Gln444Pro"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Gln444Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2927,
          "referenceAllele": "A",
          "start": 2926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.2927A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 209,
          "referenceAllele": "A",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000673203.1:n.209A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1713,
          "referenceAllele": "A",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.1331A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Gln444Pro",
        "hgvsWellDefined": "ENSP00000295754.5:p.Gln444Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "A",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.1406A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Gln469Pro",
        "hgvsWellDefined": "ENSP00000351905.4:p.Gln469Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825336824",
      "coordinates": [
        {
          "allele": "C",
          "end": 1788,
          "referenceAllele": "A",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.1406A>C",
        "LRG_779t1:c.1406A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Gln469Pro",
        "hgvsWellDefined": "NP_001020018.1:p.Gln469Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426379",
      "coordinates": [
        {
          "allele": "C",
          "end": 1713,
          "referenceAllele": "A",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.1331A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Gln444Pro",
        "hgvsWellDefined": "NP_003233.4:p.Gln444Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1450,
          "referenceAllele": "A",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.1358A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Gln453Pro",
        "hgvsWellDefined": "XP_011532345.1:p.Gln453Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1298,
          "referenceAllele": "A",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.1283A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Gln428Pro",
        "hgvsWellDefined": "XP_011532346.1:p.Gln428Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1338,
          "referenceAllele": "A",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.1226A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Gln409Pro",
        "hgvsWellDefined": "XP_011532347.1:p.Gln409Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1561,
          "referenceAllele": "A",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.1358A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Gln453Pro",
        "hgvsWellDefined": "XP_011532345.1:p.Gln453Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1359,
          "referenceAllele": "A",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.1226A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Gln409Pro",
        "hgvsWellDefined": "XP_011532347.1:p.Gln409Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2927,
          "referenceAllele": "A",
          "start": 2926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.1226A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Gln409Pro",
        "hgvsWellDefined": "XP_016862595.1:p.Gln409Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829426379",
      "coordinates": [
        {
          "allele": "C",
          "end": 1614,
          "referenceAllele": "A",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.1331A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Gln444Pro",
        "hgvsWellDefined": "NP_003233.4:p.Gln444Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1331A>C"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1331A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Gln444Pro"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Gln444Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}