{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350337794",
  "communityStandardTitle": [
    "NM_001204.7(BMPR2):c.419-1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1330434[alleleid]",
        "alleleId": 1330434,
        "preferredName": "NM_001204.7(BMPR2):c.419-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1339375",
        "RCV": [
          "RCV001823971",
          "RCV002542751"
        ],
        "variationId": 1339375
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.203378441G>T?assembly=hg19",
        "id": "chr2:g.203378441G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202513718G>T?assembly=hg38",
        "id": "chr2:g.202513718G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2106002050",
        "rs": 2106002050
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-202513718-G-T?dataset=gnomad_r4",
        "id": "2-202513718-G-T",
        "variant": "2:202513718 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 202513718,
          "referenceAllele": "G",
          "start": 202513717
        }
      ],
      "hgvs": [
        "NC_000002.12:g.202513718G>T",
        "CM000664.2:g.202513718G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 203378441,
          "referenceAllele": "G",
          "start": 203378440
        }
      ],
      "hgvs": [
        "NC_000002.11:g.203378441G>T",
        "CM000664.1:g.203378441G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 203086686,
          "referenceAllele": "G",
          "start": 203086685
        }
      ],
      "hgvs": [
        "NC_000002.10:g.203086686G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142392,
          "referenceAllele": "G",
          "start": 142391
        }
      ],
      "hgvs": [
        "NG_009363.1:g.142392G>T",
        "LRG_712:g.142392G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1566,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1566,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.10:c.419-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:n.419-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.419-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.419-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:n.419-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:n.419-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000638587.1:c.350-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491062.1:n.350-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 459,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374574.2:c.419-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363702.2:n.419-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 957,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.8:c.419-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:n.419-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1566,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1566,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.6:c.419-1G>T",
        "LRG_712t1:c.419-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:n.419-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1583,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1583,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511687.1:c.419-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509989.1:n.419-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1583,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1583,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511688.1:c.419-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509990.1:n.419-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1566,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1566,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.7:c.419-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:n.419-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.419-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.419-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:n.419-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:n.419-1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}