{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1703605919",
  "communityStandardTitle": [
    "NM_000290.4(PGAM2):c.233G= (p.Trp78=)",
    "NM_001014436.3(DBNL):c.*4381C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10250779",
        "rs": 10250779
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 44065297,
          "referenceAllele": "C",
          "start": 44065296
        }
      ],
      "hgvs": [
        "NC_000007.14:g.44065297C=",
        "CM000669.2:g.44065297C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 44104896,
          "referenceAllele": "C",
          "start": 44104895
        }
      ],
      "hgvs": [
        "NC_000007.13:g.44104896C=",
        "CM000669.1:g.44104896C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 44071421,
          "referenceAllele": "C",
          "start": 44071420
        }
      ],
      "hgvs": [
        "NC_000007.12:g.44071421C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5291,
          "referenceAllele": "G",
          "start": 5290
        }
      ],
      "hgvs": [
        "NG_013016.1:g.5291G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002663"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008889",
      "geneNCBI_id": 5224,
      "geneSymbol": "PGAM2",
      "hgvs": [
        "ENST00000297283.4:c.233G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297283.3:p.Trp78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744512",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297283.4:c.233G="
          },
          "RefSeq": {
            "hgvs": "NM_000290.4:c.233G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297283.3:p.Trp78="
          },
          "RefSeq": {
            "hgvs": "NP_000281.2:p.Trp78="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5710,
          "referenceAllele": "C",
          "start": 5709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002696",
      "geneNCBI_id": 28988,
      "geneSymbol": "DBNL",
      "hgvs": [
        "ENST00000448521.6:c.*4381C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411701.1:n.*4381C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756177",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000448521.6:c.*4381C="
          },
          "RefSeq": {
            "hgvs": "NM_001014436.3:c.*4381C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000411701.1:n.*4381C="
          },
          "RefSeq": {
            "hgvs": "NP_001014436.1:n.*4381C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008889",
      "geneNCBI_id": 5224,
      "geneSymbol": "PGAM2",
      "hgvs": [
        "ENST00000297283.3:c.233G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297283.3:p.Trp78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5459,
          "referenceAllele": "C",
          "start": 5458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002696",
      "geneNCBI_id": 28988,
      "geneSymbol": "DBNL",
      "hgvs": [
        "ENST00000432854.5:c.5459C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073445919",
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008889",
      "geneNCBI_id": 5224,
      "geneSymbol": "PGAM2",
      "hgvs": [
        "NM_000290.3:c.233G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000281.2:p.Trp78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008889",
      "geneNCBI_id": 5224,
      "geneSymbol": "PGAM2",
      "hgvs": [
        "XM_011515426.1:c.233G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513728.1:p.Trp78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082646"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073445919",
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008889",
      "geneNCBI_id": 5224,
      "geneSymbol": "PGAM2",
      "hgvs": [
        "NM_000290.4:c.233G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000281.2:p.Trp78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297283.4:c.233G="
          },
          "RefSeq": {
            "hgvs": "NM_000290.4:c.233G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297283.3:p.Trp78="
          },
          "RefSeq": {
            "hgvs": "NP_000281.2:p.Trp78="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5710,
          "referenceAllele": "C",
          "start": 5709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002696",
      "geneNCBI_id": 28988,
      "geneSymbol": "DBNL",
      "hgvs": [
        "NM_001014436.3:c.*4381C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001014436.1:n.*4381C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675493",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000448521.6:c.*4381C="
          },
          "RefSeq": {
            "hgvs": "NM_001014436.3:c.*4381C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000411701.1:n.*4381C="
          },
          "RefSeq": {
            "hgvs": "NP_001014436.1:n.*4381C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5737,
          "referenceAllele": "C",
          "start": 5736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002696",
      "geneNCBI_id": 28988,
      "geneSymbol": "DBNL",
      "hgvs": [
        "NM_001122956.2:c.*4381C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001116428.1:n.*4381C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5541,
          "referenceAllele": "C",
          "start": 5540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002696",
      "geneNCBI_id": 28988,
      "geneSymbol": "DBNL",
      "hgvs": [
        "NM_001284313.2:c.*4381C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001271242.1:n.*4381C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5734,
          "referenceAllele": "C",
          "start": 5733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002696",
      "geneNCBI_id": 28988,
      "geneSymbol": "DBNL",
      "hgvs": [
        "NM_001362723.2:c.*4381C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349652.1:n.*4381C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5713,
          "referenceAllele": "C",
          "start": 5712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002696",
      "geneNCBI_id": 28988,
      "geneSymbol": "DBNL",
      "hgvs": [
        "NM_014063.7:c.*4381C="
      ],
      "proteinEffect": {
        "hgvs": "NP_054782.2:n.*4381C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697180"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5525,
          "referenceAllele": "C",
          "start": 5524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002696",
      "geneNCBI_id": 28988,
      "geneSymbol": "DBNL",
      "hgvs": [
        "NM_001284315.2:c.*4381C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001271244.1:n.*4381C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716059"
    }
  ],
  "type": "nucleotide"
}