{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1354871649",
  "communityStandardTitle": [
    "NM_003242.6(TGFBR2):c.455-2887A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3773643",
        "rs": 3773643
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30668751,
          "referenceAllele": "A",
          "start": 30668750
        }
      ],
      "hgvs": [
        "NC_000003.12:g.30668751A=",
        "CM000665.2:g.30668751A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30710243,
          "referenceAllele": "A",
          "start": 30710242
        }
      ],
      "hgvs": [
        "NC_000003.11:g.30710243A=",
        "CM000665.1:g.30710243A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 30685247,
          "referenceAllele": "A",
          "start": 30685246
        }
      ],
      "hgvs": [
        "NC_000003.10:g.30685247A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67250,
          "referenceAllele": "A",
          "start": 67249
        }
      ],
      "hgvs": [
        "NG_007490.1:g.67250A=",
        "LRG_779:g.67250A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 737,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.10:c.455-2887A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:n.455-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744324",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.455-2887A="
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.455-2887A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:n.455-2887A="
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:n.455-2887A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2050,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 2050,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000672866.1:n.2051-2887A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000295754.9:c.455-2887A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295754.5:n.455-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 812,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 812,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "ENST00000359013.4:c.530-2887A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351905.4:n.530-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 911,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_001024847.2:c.530-2887A=",
        "LRG_779t1:c.530-2887A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020018.1:n.530-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.5:c.455-2887A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:n.455-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 573,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.1:c.482-2887A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:n.482-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534044.1:c.407-2887A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532346.1:n.407-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 461,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.1:c.350-2887A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:n.350-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 684,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534043.2:c.482-2887A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532345.1:n.482-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_011534045.3:c.350-2887A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011532347.1:n.350-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2050,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 2050,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "XM_017007106.1:c.350-2887A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862595.1:n.350-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "endIntronDirection": "-",
          "endIntronOffset": 2886,
          "referenceAllele": "A",
          "start": 737,
          "startIntronDirection": "-",
          "startIntronOffset": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NM_003242.6:c.455-2887A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003233.4:n.455-2887A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695764",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295754.10:c.455-2887A="
          },
          "RefSeq": {
            "hgvs": "NM_003242.6:c.455-2887A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295754.5:n.455-2887A="
          },
          "RefSeq": {
            "hgvs": "NP_003233.4:n.455-2887A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}