{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1470756752",
  "communityStandardTitle": [
    "NM_198892.2(BMP2K):c.3005C= (p.Thr1002=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12507099",
        "rs": 12507099
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 78911552,
          "referenceAllele": "C",
          "start": 78911551
        }
      ],
      "hgvs": [
        "NC_000004.12:g.78911552C=",
        "CM000666.2:g.78911552C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 79832706,
          "referenceAllele": "C",
          "start": 79832705
        }
      ],
      "hgvs": [
        "NC_000004.11:g.79832706C=",
        "CM000666.1:g.79832706C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 80051730,
          "referenceAllele": "C",
          "start": 80051729
        }
      ],
      "hgvs": [
        "NC_000004.10:g.80051730C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 140175,
          "referenceAllele": "C",
          "start": 140174
        }
      ],
      "hgvs": [
        "NG_047162.1:g.140175C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32887,
          "referenceAllele": "G",
          "start": 32886
        }
      ],
      "hgvs": [
        "NG_053104.1:g.32887G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617392"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3199,
          "referenceAllele": "C",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018041",
      "geneNCBI_id": 55589,
      "geneSymbol": "BMP2K",
      "hgvs": [
        "ENST00000502613.3:c.3005C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424668.2:p.Thr1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000502613.3:c.3005C="
          },
          "RefSeq": {
            "hgvs": "NM_198892.2:c.3005C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424668.2:p.Thr1002="
          },
          "RefSeq": {
            "hgvs": "NP_942595.1:p.Thr1002="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3171,
          "referenceAllele": "C",
          "start": 3170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018041",
      "geneNCBI_id": 55589,
      "geneSymbol": "BMP2K",
      "hgvs": [
        "ENST00000335016.9:c.3005C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334836.5:p.Thr1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1828,
          "endIntronDirection": "+",
          "endIntronOffset": 3658,
          "referenceAllele": "G",
          "start": 1828,
          "startIntronDirection": "+",
          "startIntronOffset": 3657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030130",
      "geneNCBI_id": 152559,
      "geneSymbol": "PAQR3",
      "hgvs": [
        "ENST00000342820.10:c.*782+3658G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344203.6:n.*782+3658G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2082,
          "referenceAllele": "C",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018041",
      "geneNCBI_id": 55589,
      "geneSymbol": "BMP2K",
      "hgvs": [
        "ENST00000502613.1:c.2082C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1574,
          "referenceAllele": "G",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030130",
      "geneNCBI_id": 152559,
      "geneSymbol": "PAQR3",
      "hgvs": [
        "ENST00000511594.5:c.*637G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425080.1:n.*637G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "endIntronDirection": "+",
          "endIntronOffset": 3658,
          "referenceAllele": "G",
          "start": 1194,
          "startIntronDirection": "+",
          "startIntronOffset": 3657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030130",
      "geneNCBI_id": 152559,
      "geneSymbol": "PAQR3",
      "hgvs": [
        "ENST00000512760.5:c.*792+3658G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426875.1:n.*792+3658G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3215,
          "referenceAllele": "C",
          "start": 3214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018041",
      "geneNCBI_id": 55589,
      "geneSymbol": "BMP2K",
      "hgvs": [
        "ENST00000628286.1:c.*1981C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487317.1:n.*1981C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069876080",
      "coordinates": [
        {
          "allele": "C",
          "end": 3171,
          "referenceAllele": "C",
          "start": 3170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018041",
      "geneNCBI_id": 55589,
      "geneSymbol": "BMP2K",
      "hgvs": [
        "NM_198892.1:c.3005C="
      ],
      "proteinEffect": {
        "hgvs": "NP_942595.1:p.Thr1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3035,
          "referenceAllele": "C",
          "start": 3034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018041",
      "geneNCBI_id": 55589,
      "geneSymbol": "BMP2K",
      "hgvs": [
        "XM_005263117.1:c.2894C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005263174.1:p.Thr965="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2980,
          "referenceAllele": "C",
          "start": 2979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018041",
      "geneNCBI_id": 55589,
      "geneSymbol": "BMP2K",
      "hgvs": [
        "XM_011532101.1:c.2765C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530403.1:p.Thr922="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1117,
          "endIntronDirection": "-",
          "endIntronOffset": 5390,
          "referenceAllele": "G",
          "start": 1117,
          "startIntronDirection": "-",
          "startIntronOffset": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030130",
      "geneNCBI_id": 152559,
      "geneSymbol": "PAQR3",
      "hgvs": [
        "XR_938694.1:n.1118-5391G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2923,
          "referenceAllele": "C",
          "start": 2922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018041",
      "geneNCBI_id": 55589,
      "geneSymbol": "BMP2K",
      "hgvs": [
        "XM_017008381.1:c.2765C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863870.1:p.Thr922="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2626,
          "referenceAllele": "C",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018041",
      "geneNCBI_id": 55589,
      "geneSymbol": "BMP2K",
      "hgvs": [
        "XM_017008382.1:c.2117C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863871.1:p.Thr706="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562896"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1097,
          "endIntronDirection": "-",
          "endIntronOffset": 5390,
          "referenceAllele": "G",
          "start": 1097,
          "startIntronDirection": "-",
          "startIntronOffset": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030130",
      "geneNCBI_id": 152559,
      "geneSymbol": "PAQR3",
      "hgvs": [
        "XR_938694.3:n.1098-5391G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069876080",
      "coordinates": [
        {
          "allele": "C",
          "end": 3199,
          "referenceAllele": "C",
          "start": 3198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018041",
      "geneNCBI_id": 55589,
      "geneSymbol": "BMP2K",
      "hgvs": [
        "NM_198892.2:c.3005C="
      ],
      "proteinEffect": {
        "hgvs": "NP_942595.1:p.Thr1002="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729937",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000502613.3:c.3005C="
          },
          "RefSeq": {
            "hgvs": "NM_198892.2:c.3005C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424668.2:p.Thr1002="
          },
          "RefSeq": {
            "hgvs": "NP_942595.1:p.Thr1002="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}