{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1321507937",
  "communityStandardTitle": [
    "NM_001204.7(BMPR2):c.247G= (p.Gly83=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307187",
        "rs": 1085307187
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 202464979,
          "referenceAllele": "G",
          "start": 202464978
        }
      ],
      "hgvs": [
        "NC_000002.12:g.202464979G=",
        "CM000664.2:g.202464979G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 203329702,
          "referenceAllele": "G",
          "start": 203329701
        }
      ],
      "hgvs": [
        "NC_000002.11:g.203329702G=",
        "CM000664.1:g.203329702G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 203037947,
          "referenceAllele": "G",
          "start": 203037946
        }
      ],
      "hgvs": [
        "NC_000002.10:g.203037947G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93653,
          "referenceAllele": "G",
          "start": 93652
        }
      ],
      "hgvs": [
        "NG_009363.1:g.93653G=",
        "LRG_712:g.93653G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "G",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.10:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Gly83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.247G="
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.247G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Gly83="
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Gly83="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 172,
          "referenceAllele": "G",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000638587.1:c.172G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491062.1:p.Gly58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374574.2:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363702.2:p.Gly83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.8:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Gly83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000479069.1:n.154G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319531"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067234262",
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "G",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.6:c.247G=",
        "LRG_712t1:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Gly83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511687.1:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509989.1:p.Gly83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511688.1:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509990.1:p.Gly83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067234262",
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "G",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.7:c.247G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Gly83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.247G="
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.247G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Gly83="
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Gly83="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}