{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351809659",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.1609C>A (p.Arg537Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30732996C>A?assembly=hg19",
        "id": "chr3:g.30732996C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.30691504C>A?assembly=hg38",
        "id": "chr3:g.30691504C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893809",
        "rs": 104893809
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30691504,
          "referenceAllele": "C",
          "start": 30691503
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30691504C>A",
        "CM000665.2:g.30691504C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30732996,
          "referenceAllele": "C",
          "start": 30732995
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30732996C>A",
        "CM000665.1:g.30732996C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30708000,
          "referenceAllele": "C",
          "start": 30707999
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30708000C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 90003,
          "referenceAllele": "C",
          "start": 90002
        }
      ],
      "hgvs": [
        "NG_007490.1:g.90003C>A",
        "LRG_779:g.90003C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1892,
          "referenceAllele": "C",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.1609C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Arg537Ser",
        "hgvsWellDefined": "ENSP00000295754.5:p.Arg537Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1609C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1609C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Arg537Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Arg537Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672050.1:n.493C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3205,
          "referenceAllele": "C",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.3205C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000673203.1:n.487C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1991,
          "referenceAllele": "C",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.1609C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:p.Arg537Ser",
        "hgvsWellDefined": "ENSP00000295754.5:p.Arg537Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.1684C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:p.Arg562Ser",
        "hgvsWellDefined": "ENSP00000351905.4:p.Arg562Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.1684C>A",
        "LRG_779t1:c.1684C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:p.Arg562Ser",
        "hgvsWellDefined": "NP_001020018.1:p.Arg562Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068384610",
      "coordinates": [
        {
          "allele": "A",
          "end": 1991,
          "referenceAllele": "C",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.1609C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Arg537Ser",
        "hgvsWellDefined": "NP_003233.4:p.Arg537Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.1636C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Arg546Ser",
        "hgvsWellDefined": "XP_011532345.1:p.Arg546Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.1561C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:p.Arg521Ser",
        "hgvsWellDefined": "XP_011532346.1:p.Arg521Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1616,
          "referenceAllele": "C",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.1504C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Arg502Ser",
        "hgvsWellDefined": "XP_011532347.1:p.Arg502Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1839,
          "referenceAllele": "C",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.1636C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:p.Arg546Ser",
        "hgvsWellDefined": "XP_011532345.1:p.Arg546Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.1504C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:p.Arg502Ser",
        "hgvsWellDefined": "XP_011532347.1:p.Arg502Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3205,
          "referenceAllele": "C",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.1504C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:p.Arg502Ser",
        "hgvsWellDefined": "XP_016862595.1:p.Arg502Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068384610",
      "coordinates": [
        {
          "allele": "A",
          "end": 1892,
          "referenceAllele": "C",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.1609C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:p.Arg537Ser",
        "hgvsWellDefined": "NP_003233.4:p.Arg537Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.1609C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.1609C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:p.Arg537Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:p.Arg537Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}