{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278081",
  "communityStandardTitle": [
    "NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1015016",
        "active": true,
        "id": "COSM1015016"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23841[alleleid]",
        "alleleId": 23841,
        "preferredName": "NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8802",
        "RCV": [
          "RCV000009347",
          "RCV000493405",
          "RCV001003725",
          "RCV001823867",
          "RCV002512939",
          "RCV004549350"
        ],
        "variationId": 8802
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.203417496C>T?assembly=hg19",
        "id": "chr2:g.203417496C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202552773C>T?assembly=hg38",
        "id": "chr2:g.202552773C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852746",
        "rs": 137852746
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 202552773,
          "referenceAllele": "C",
          "start": 202552772
        }
      ],
      "hgvs": [
        "NC_000002.12:g.202552773C>T",
        "CM000664.2:g.202552773C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 203417496,
          "referenceAllele": "C",
          "start": 203417495
        }
      ],
      "hgvs": [
        "NC_000002.11:g.203417496C>T",
        "CM000664.1:g.203417496C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 203125741,
          "referenceAllele": "C",
          "start": 203125740
        }
      ],
      "hgvs": [
        "NC_000002.10:g.203125741C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181447,
          "referenceAllele": "C",
          "start": 181446
        }
      ],
      "hgvs": [
        "NG_009363.1:g.181447C>T",
        "LRG_712:g.181447C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2619,
          "referenceAllele": "C",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.10:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Arg491Trp",
        "hgvsWellDefined": "ENSP00000363708.4:p.Arg491Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.1471C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.1471C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Arg491Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Arg491Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000638587.1:c.1402C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491062.1:p.Arg468Trp",
        "hgvsWellDefined": "ENSP00000491062.1:p.Arg468Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374574.2:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363702.2:p.Arg491Trp",
        "hgvsWellDefined": "ENSP00000363702.2:p.Arg491Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2010,
          "referenceAllele": "C",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.8:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Arg491Trp",
        "hgvsWellDefined": "ENSP00000363708.4:p.Arg491Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111687",
      "coordinates": [
        {
          "allele": "T",
          "end": 2619,
          "referenceAllele": "C",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.6:c.1471C>T",
        "LRG_712t1:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Arg491Trp",
        "hgvsWellDefined": "NP_001195.2:p.Arg491Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2636,
          "referenceAllele": "C",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511687.1:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509989.1:p.Arg491Trp",
        "hgvsWellDefined": "XP_011509989.1:p.Arg491Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2636,
          "referenceAllele": "C",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511688.1:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509990.1:p.Arg491Trp",
        "hgvsWellDefined": "XP_011509990.1:p.Arg491Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111687",
      "coordinates": [
        {
          "allele": "T",
          "end": 2619,
          "referenceAllele": "C",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.7:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Arg491Trp",
        "hgvsWellDefined": "NP_001195.2:p.Arg491Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.1471C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.1471C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Arg491Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Arg491Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}