{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1625444641",
  "communityStandardTitle": [
    "NM_001024630.4(RUNX2):c.673C= (p.Arg225=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893992",
        "rs": 104893992
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 45438039,
          "referenceAllele": "C",
          "start": 45438038
        }
      ],
      "hgvs": [
        "NC_000006.12:g.45438039C=",
        "CM000668.2:g.45438039C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 45405776,
          "referenceAllele": "C",
          "start": 45405775
        }
      ],
      "hgvs": [
        "NC_000006.11:g.45405776C=",
        "CM000668.1:g.45405776C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 45513754,
          "referenceAllele": "C",
          "start": 45513753
        }
      ],
      "hgvs": [
        "NC_000006.10:g.45513754C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 114723,
          "referenceAllele": "C",
          "start": 114722
        }
      ],
      "hgvs": [
        "NG_008020.1:g.114723C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000780"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 114723,
          "referenceAllele": "C",
          "start": 114722
        }
      ],
      "hgvs": [
        "NG_008020.2:g.114723C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673483"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000646519.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496517.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 870,
          "referenceAllele": "C",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000647337.2:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495497.1:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647337.2:c.673C="
          },
          "RefSeq": {
            "hgvs": "NM_001024630.4:c.673C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495497.1:p.Arg225="
          },
          "RefSeq": {
            "hgvs": "NP_001019801.3:p.Arg225="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000359524.7:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352514.5:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000371432.7:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360486.4:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000371436.10:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360491.6:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000371438.5:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360493.1:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000465038.6:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420707.2:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000478660.6:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460188.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "C",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000483377.5:c.*194C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461357.1:n.*194C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000576263.5:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458178.1:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000625924.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485863.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001015051.3:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001015051.3:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008530"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072144828",
      "coordinates": [
        {
          "allele": "C",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001024630.3:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001019801.3:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001278478.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265407.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "referenceAllele": "C",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_006715232.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715295.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514960.1:c.877C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513262.1:p.Arg293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082181"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514961.1:c.877C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513263.1:p.Arg293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514962.1:c.877C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513264.1:p.Arg293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "referenceAllele": "C",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514963.1:c.877C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513265.1:p.Arg293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514964.1:c.877C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513266.1:p.Arg293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514965.1:c.877C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513267.1:p.Arg293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514966.1:c.205C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513268.1:p.Arg69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1394,
          "referenceAllele": "C",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514967.1:c.877C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513269.1:p.Arg293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514968.1:c.877C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513270.1:p.Arg293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082189"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1389,
          "referenceAllele": "C",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XR_926323.1:n.1389C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072144828",
      "coordinates": [
        {
          "allele": "C",
          "end": 870,
          "referenceAllele": "C",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001024630.4:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001019801.3:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647337.2:c.673C="
          },
          "RefSeq": {
            "hgvs": "NM_001024630.4:c.673C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495497.1:p.Arg225="
          },
          "RefSeq": {
            "hgvs": "NP_001019801.3:p.Arg225="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 933,
          "referenceAllele": "C",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001278478.2:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265407.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 933,
          "referenceAllele": "C",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001369405.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356334.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 870,
          "referenceAllele": "C",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001015051.4:c.673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001015051.3:p.Arg225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711368"
    }
  ],
  "type": "nucleotide"
}