{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA324555",
  "communityStandardTitle": [
    "NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209587[alleleid]",
        "alleleId": 209587,
        "preferredName": "NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212809",
        "RCV": [
          "RCV000200009",
          "RCV001823875"
        ],
        "variationId": 212809
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.203383769T>G?assembly=hg19",
        "id": "chr2:g.203383769T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202519046T>G?assembly=hg38",
        "id": "chr2:g.202519046T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223419",
        "rs": 863223419
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 202519046,
          "referenceAllele": "T",
          "start": 202519045
        }
      ],
      "hgvs": [
        "NC_000002.12:g.202519046T>G",
        "CM000664.2:g.202519046T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 203383769,
          "referenceAllele": "T",
          "start": 203383768
        }
      ],
      "hgvs": [
        "NC_000002.11:g.203383769T>G",
        "CM000664.1:g.203383769T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 203092014,
          "referenceAllele": "T",
          "start": 203092013
        }
      ],
      "hgvs": [
        "NC_000002.10:g.203092014T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 147720,
          "referenceAllele": "T",
          "start": 147719
        }
      ],
      "hgvs": [
        "NG_009363.1:g.147720T>G",
        "LRG_712:g.147720T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1994,
          "referenceAllele": "T",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.10:c.846T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Tyr282Ter",
        "hgvsWellDefined": "ENSP00000363708.4:p.Tyr282_Leu1038delinsProAsnGlySerLeuCysLysTyrLeuSerLeuHisThrSerAspTrpValSerSerCysArgLeuAlaHisSerValThrArgGlyLeuAlaTyrLeuHisThrGluLeuProArgGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.846T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.846T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Tyr282Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Tyr282Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 777,
          "referenceAllele": "T",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000638587.1:c.777T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491062.1:p.Tyr259Ter",
        "hgvsWellDefined": "ENSP00000491062.1:p.Tyr259_Glu505del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 887,
          "referenceAllele": "T",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374574.2:c.846T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363702.2:p.Tyr282Ter",
        "hgvsWellDefined": "ENSP00000363702.2:p.Tyr282_Arg530delinsProAsnGlySerLeuCysLysTyrLeuSerLeuHisThrSerAspTrpValSerSerCysArgLeuAlaHisSerValThrArgGlyLeuAlaTyrLeuHisThrGluLeuProArgGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1385,
          "referenceAllele": "T",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.8:c.846T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Tyr282Ter",
        "hgvsWellDefined": "ENSP00000363708.4:p.Tyr282_Leu1038delinsProAsnGlySerLeuCysLysTyrLeuSerLeuHisThrSerAspTrpValSerSerCysArgLeuAlaHisSerValThrArgGlyLeuAlaTyrLeuHisThrGluLeuProArgGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA324557",
      "coordinates": [
        {
          "allele": "G",
          "end": 1994,
          "referenceAllele": "T",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.6:c.846T>G",
        "LRG_712t1:c.846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Tyr282Ter",
        "hgvsWellDefined": "NP_001195.2:p.Tyr282_Leu1038delinsProAsnGlySerLeuCysLysTyrLeuSerLeuHisThrSerAspTrpValSerSerCysArgLeuAlaHisSerValThrArgGlyLeuAlaTyrLeuHisThrGluLeuProArgGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2011,
          "referenceAllele": "T",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511687.1:c.846T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509989.1:p.Tyr282Ter",
        "hgvsWellDefined": "XP_011509989.1:p.Tyr282_Leu1037delinsProAsnGlySerLeuCysLysTyrLeuSerLeuHisThrSerAspTrpValSerSerCysArgLeuAlaHisSerValThrArgGlyLeuAlaTyrLeuHisThrGluLeuProArgGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnSerGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2011,
          "referenceAllele": "T",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511688.1:c.846T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509990.1:p.Tyr282Ter",
        "hgvsWellDefined": "XP_011509990.1:p.Tyr282_Arg530delinsProAsnGlySerLeuCysLysTyrLeuSerLeuHisThrSerAspTrpValSerSerCysArgLeuAlaHisSerValThrArgGlyLeuAlaTyrLeuHisThrGluLeuProArgGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA324557",
      "coordinates": [
        {
          "allele": "G",
          "end": 1994,
          "referenceAllele": "T",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.7:c.846T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Tyr282Ter",
        "hgvsWellDefined": "NP_001195.2:p.Tyr282_Leu1038delinsProAsnGlySerLeuCysLysTyrLeuSerLeuHisThrSerAspTrpValSerSerCysArgLeuAlaHisSerValThrArgGlyLeuAlaTyrLeuHisThrGluLeuProArgGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.846T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.846T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Tyr282Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Tyr282Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}