{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350348813",
  "communityStandardTitle": [
    "NM_001204.7(BMPR2):c.2548C>T (p.Gln850Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=801059[alleleid]",
        "alleleId": 801059,
        "preferredName": "NM_001204.7(BMPR2):c.2548C>T (p.Gln850Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812847",
        "RCV": [
          "RCV001003742"
        ],
        "variationId": 812847
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.203420936C>T?assembly=hg19",
        "id": "chr2:g.203420936C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202556213C>T?assembly=hg38",
        "id": "chr2:g.202556213C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1574507276",
        "rs": 1574507276
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 202556213,
          "referenceAllele": "C",
          "start": 202556212
        }
      ],
      "hgvs": [
        "NC_000002.12:g.202556213C>T",
        "CM000664.2:g.202556213C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 203420936,
          "referenceAllele": "C",
          "start": 203420935
        }
      ],
      "hgvs": [
        "NC_000002.11:g.203420936C>T",
        "CM000664.1:g.203420936C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 203129181,
          "referenceAllele": "C",
          "start": 203129180
        }
      ],
      "hgvs": [
        "NC_000002.10:g.203129181C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184887,
          "referenceAllele": "C",
          "start": 184886
        }
      ],
      "hgvs": [
        "NG_009363.1:g.184887C>T",
        "LRG_712:g.184887C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3696,
          "referenceAllele": "C",
          "start": 3695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.10:c.2548C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Gln850Ter",
        "hgvsWellDefined": "ENSP00000363708.4:p.Gln850_Leu1038delinsPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.2548C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.2548C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Gln850Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Gln850Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2479,
          "referenceAllele": "C",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000638587.1:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491062.1:n.2479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1627,
          "endIntronDirection": "+",
          "endIntronOffset": 3325,
          "referenceAllele": "C",
          "start": 1627,
          "startIntronDirection": "+",
          "startIntronOffset": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374574.2:c.1586+3325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363702.2:n.1586+3325C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3087,
          "referenceAllele": "C",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.8:c.2548C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Gln850Ter",
        "hgvsWellDefined": "ENSP00000363708.4:p.Gln850_Leu1038delinsPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915971038",
      "coordinates": [
        {
          "allele": "T",
          "end": 3696,
          "referenceAllele": "C",
          "start": 3695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.6:c.2548C>T",
        "LRG_712t1:c.2548C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Gln850Ter",
        "hgvsWellDefined": "NP_001195.2:p.Gln850_Leu1038delinsPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3713,
          "referenceAllele": "C",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511687.1:c.2548C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509989.1:p.Gln850Ter",
        "hgvsWellDefined": "XP_011509989.1:p.Gln850_Leu1037delinsPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnSerGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "endIntronDirection": "+",
          "endIntronOffset": 3325,
          "referenceAllele": "C",
          "start": 2751,
          "startIntronDirection": "+",
          "startIntronOffset": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511688.1:c.1586+3325C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509990.1:n.1586+3325C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915971038",
      "coordinates": [
        {
          "allele": "T",
          "end": 3696,
          "referenceAllele": "C",
          "start": 3695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.7:c.2548C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Gln850Ter",
        "hgvsWellDefined": "NP_001195.2:p.Gln850_Leu1038delinsPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.2548C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.2548C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Gln850Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Gln850Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}