{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350399499",
  "communityStandardTitle": [
    "NM_001204.7(BMPR2):c.248-2A>G"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4920324",
        "active": true,
        "id": "COSM4920324"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414124[alleleid]",
        "alleleId": 414124,
        "preferredName": "NM_001204.7(BMPR2):c.248-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425737",
        "RCV": [
          "RCV000488795",
          "RCV001376550"
        ],
        "variationId": 425737
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.203332240A>G?assembly=hg19",
        "id": "chr2:g.203332240A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202467517A>G?assembly=hg38",
        "id": "chr2:g.202467517A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307193",
        "rs": 1085307193
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 202467517,
          "referenceAllele": "A",
          "start": 202467516
        }
      ],
      "hgvs": [
        "NC_000002.12:g.202467517A>G",
        "CM000664.2:g.202467517A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 203332240,
          "referenceAllele": "A",
          "start": 203332239
        }
      ],
      "hgvs": [
        "NC_000002.11:g.203332240A>G",
        "CM000664.1:g.203332240A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 203040485,
          "referenceAllele": "A",
          "start": 203040484
        }
      ],
      "hgvs": [
        "NC_000002.10:g.203040485A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96191,
          "referenceAllele": "A",
          "start": 96190
        }
      ],
      "hgvs": [
        "NG_009363.1:g.96191A>G",
        "LRG_712:g.96191A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1395,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.10:c.248-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:n.248-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.248-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.248-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:n.248-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:n.248-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000638587.1:c.179-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491062.1:n.179-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 288,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374574.2:c.248-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363702.2:n.248-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 786,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.8:c.248-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:n.248-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 154,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000479069.1:n.155-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1395,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.6:c.248-2A>G",
        "LRG_712t1:c.248-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:n.248-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1412,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511687.1:c.248-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509989.1:n.248-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1412,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511688.1:c.248-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509990.1:n.248-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1395,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.7:c.248-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:n.248-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.248-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.248-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:n.248-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:n.248-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}