{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1321507484",
  "communityStandardTitle": [
    "NM_001204.7(BMPR2):c.88C= (p.Gln30=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307161",
        "rs": 1085307161
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 202464820,
          "referenceAllele": "C",
          "start": 202464819
        }
      ],
      "hgvs": [
        "NC_000002.12:g.202464820C=",
        "CM000664.2:g.202464820C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 203329543,
          "referenceAllele": "C",
          "start": 203329542
        }
      ],
      "hgvs": [
        "NC_000002.11:g.203329543C=",
        "CM000664.1:g.203329543C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 203037788,
          "referenceAllele": "C",
          "start": 203037787
        }
      ],
      "hgvs": [
        "NC_000002.10:g.203037788C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93494,
          "referenceAllele": "C",
          "start": 93493
        }
      ],
      "hgvs": [
        "NG_009363.1:g.93494C=",
        "LRG_712:g.93494C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.10:c.88C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Gln30="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.88C="
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.88C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Gln30="
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Gln30="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13,
          "referenceAllele": "C",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000638587.1:c.13C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491062.1:p.Gln5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374574.2:c.88C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363702.2:p.Gln30="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.8:c.88C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Gln30="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066750875",
      "coordinates": [
        {
          "allele": "C",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.6:c.88C=",
        "LRG_712t1:c.88C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Gln30="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511687.1:c.88C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509989.1:p.Gln30="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511688.1:c.88C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509990.1:p.Gln30="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066750875",
      "coordinates": [
        {
          "allele": "C",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.7:c.88C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Gln30="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.88C="
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.88C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Gln30="
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Gln30="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}