{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5430089",
  "communityStandardTitle": [
    "NM_201596.3(CACNB2):c.1531C>T (p.Arg511Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4013222",
        "active": true,
        "id": "COSM4013222"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4013223",
        "active": true,
        "id": "COSM4013223"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4013224",
        "active": true,
        "id": "COSM4013224"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4013225",
        "active": true,
        "id": "COSM4013225"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4013226",
        "active": true,
        "id": "COSM4013226"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1377062[alleleid]",
        "alleleId": 1377062,
        "preferredName": "NM_201596.3(CACNB2):c.1531C>T (p.Arg511Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1389582",
        "RCV": [
          "RCV001897971",
          "RCV002386670"
        ],
        "variationId": 1389582
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-18828201-C-T",
        "id": "10-18828201-C-T",
        "variant": "10:18828201 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.18828201C>T?assembly=hg19",
        "id": "chr10:g.18828201C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.18539272C>T?assembly=hg38",
        "id": "chr10:g.18539272C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764111314",
        "rs": 764111314
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18828201-C-T?dataset=gnomad_r2_1",
        "id": "10-18828201-C-T",
        "variant": "10:18828201 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18539272-C-T?dataset=gnomad_r3",
        "id": "10-18539272-C-T",
        "variant": "10:18539272 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18539272-C-T?dataset=gnomad_r4",
        "id": "10-18539272-C-T",
        "variant": "10:18539272 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 18539272,
          "referenceAllele": "C",
          "start": 18539271
        }
      ],
      "hgvs": [
        "NC_000010.11:g.18539272C>T",
        "CM000672.2:g.18539272C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 18828201,
          "referenceAllele": "C",
          "start": 18828200
        }
      ],
      "hgvs": [
        "NC_000010.10:g.18828201C>T",
        "CM000672.1:g.18828201C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 18868207,
          "referenceAllele": "C",
          "start": 18868206
        }
      ],
      "hgvs": [
        "NC_000010.9:g.18868207C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403596,
          "referenceAllele": "C",
          "start": 403595
        }
      ],
      "hgvs": [
        "NG_016195.1:g.403596C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377315.6:c.1387C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366532.4:p.Arg463Cys",
        "hgvsWellDefined": "ENSP00000366532.4:p.Arg463Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1800,
          "referenceAllele": "C",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377319.9:c.1252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366536.3:p.Arg418Cys",
        "hgvsWellDefined": "ENSP00000366536.3:p.Arg418Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000645287.2:c.1375C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496203.1:p.Arg459Cys",
        "hgvsWellDefined": "ENSP00000496203.1:p.Arg459Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000282343.13:c.1447C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282343.8:p.Arg483Cys",
        "hgvsWellDefined": "ENSP00000282343.8:p.Arg483Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000324631.13:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320025.8:p.Arg511Cys",
        "hgvsWellDefined": "ENSP00000320025.8:p.Arg511Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746643",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324631.13:c.1531C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201596.3:c.1531C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320025.8:p.Arg511Cys"
          },
          "RefSeq": {
            "hgvs": "NP_963890.2:p.Arg511Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377315.5:c.1387C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366532.4:p.Arg463Cys",
        "hgvsWellDefined": "ENSP00000366532.4:p.Arg463Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1442,
          "referenceAllele": "C",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377319.8:c.1252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366536.3:p.Arg418Cys",
        "hgvsWellDefined": "ENSP00000366536.3:p.Arg418Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1587,
          "referenceAllele": "C",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377329.10:c.1369C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366546.4:p.Arg457Cys",
        "hgvsWellDefined": "ENSP00000366546.4:p.Arg457Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377329.10:c.1369C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201590.3:c.1369C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366546.4:p.Arg457Cys"
          },
          "RefSeq": {
            "hgvs": "NP_963884.2:p.Arg457Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1215,
          "referenceAllele": "C",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377331.8:c.1156C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366548.4:p.Arg386Cys",
        "hgvsWellDefined": "ENSP00000366548.4:p.Arg386Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000643096.2:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494209.2:p.Arg445Cys",
        "hgvsWellDefined": "ENSP00000494209.2:p.Arg445Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1742,
          "referenceAllele": "C",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000645287.1:c.1375C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496203.1:p.Arg459Cys",
        "hgvsWellDefined": "ENSP00000496203.1:p.Arg459Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1691,
          "referenceAllele": "C",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000647168.2:c.*672C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495854.2:n.*672C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1671,
          "referenceAllele": "C",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000650685.1:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498460.1:p.Arg425Cys",
        "hgvsWellDefined": "ENSP00000498460.1:p.Arg425Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1614,
          "referenceAllele": "C",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000651330.1:c.*805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498457.1:n.*805C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1088,
          "referenceAllele": "C",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000651468.1:c.1088C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498352.1:n.1088C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1794,
          "referenceAllele": "C",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000651928.1:c.*770C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499177.1:n.*770C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1498,
          "referenceAllele": "C",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000652391.1:c.1351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498938.1:p.Arg451Cys",
        "hgvsWellDefined": "ENSP00000498938.1:p.Arg451Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1784,
          "referenceAllele": "C",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000652478.1:c.*631C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498812.1:n.*631C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000282343.12:c.1447C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282343.8:p.Arg483Cys",
        "hgvsWellDefined": "ENSP00000282343.8:p.Arg483Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "C",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000324631.11:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320025.7:p.Arg511Cys",
        "hgvsWellDefined": "ENSP00000320025.7:p.Arg511Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1459,
          "referenceAllele": "C",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000352115.10:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344474.6:p.Arg487Cys",
        "hgvsWellDefined": "ENSP00000344474.6:p.Arg487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1606,
          "referenceAllele": "C",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377315.4:c.1387C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366532.4:p.Arg463Cys",
        "hgvsWellDefined": "ENSP00000366532.4:p.Arg463Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377319.7:c.1252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366536.3:p.Arg418Cys",
        "hgvsWellDefined": "ENSP00000366536.3:p.Arg418Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377328.5:c.781C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366545.1:p.Arg261Cys",
        "hgvsWellDefined": "ENSP00000366545.1:p.Arg261Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1559,
          "referenceAllele": "C",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377329.8:c.1369C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366546.4:p.Arg457Cys",
        "hgvsWellDefined": "ENSP00000366546.4:p.Arg457Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000377331.6:c.1375C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366548.2:p.Arg459Cys",
        "hgvsWellDefined": "ENSP00000366548.2:p.Arg459Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000396576.6:c.1366C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379821.2:p.Arg456Cys",
        "hgvsWellDefined": "ENSP00000379821.2:p.Arg456Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1235,
          "referenceAllele": "C",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000612134.4:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480563.1:n.1235C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000612743.1:c.43C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478676.1:p.Arg15Cys",
        "hgvsWellDefined": "ENSP00000478676.1:p.Arg15Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000615785.4:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480260.1:p.Arg206Cys",
        "hgvsWellDefined": "ENSP00000480260.1:p.Arg206Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1795,
          "referenceAllele": "C",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "ENST00000617363.4:c.1294C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479756.1:p.Arg432Cys",
        "hgvsWellDefined": "ENSP00000479756.1:p.Arg432Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825250079",
      "coordinates": [
        {
          "allele": "T",
          "end": 1981,
          "referenceAllele": "C",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_000724.3:c.1366C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000715.2:p.Arg456Cys",
        "hgvsWellDefined": "NP_000715.2:p.Arg456Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826051566",
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001167945.1:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161417.1:p.Arg445Cys",
        "hgvsWellDefined": "NP_001161417.1:p.Arg445Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830463954",
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "referenceAllele": "C",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201570.2:c.1387C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963864.1:p.Arg463Cys",
        "hgvsWellDefined": "NP_963864.1:p.Arg463Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830464787",
      "coordinates": [
        {
          "allele": "T",
          "end": 1814,
          "referenceAllele": "C",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201571.3:c.1447C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963865.2:p.Arg483Cys",
        "hgvsWellDefined": "NP_963865.2:p.Arg483Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045069"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830465604",
      "coordinates": [
        {
          "allele": "T",
          "end": 1742,
          "referenceAllele": "C",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201572.3:c.1375C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963866.2:p.Arg459Cys",
        "hgvsWellDefined": "NP_963866.2:p.Arg459Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045070"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830466663",
      "coordinates": [
        {
          "allele": "T",
          "end": 1611,
          "referenceAllele": "C",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201590.2:c.1369C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963884.2:p.Arg457Cys",
        "hgvsWellDefined": "NP_963884.2:p.Arg457Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830467527",
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201593.2:c.1417C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963887.2:p.Arg473Cys",
        "hgvsWellDefined": "NP_963887.2:p.Arg473Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045077"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573316367",
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "C",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201596.2:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963890.2:p.Arg511Cys",
        "hgvsWellDefined": "NP_963890.2:p.Arg511Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045079"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830469507",
      "coordinates": [
        {
          "allele": "T",
          "end": 1519,
          "referenceAllele": "C",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201597.2:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963891.1:p.Arg487Cys",
        "hgvsWellDefined": "NP_963891.1:p.Arg487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_005252588.2:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252645.1:p.Arg425Cys",
        "hgvsWellDefined": "XP_005252645.1:p.Arg425Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_005252591.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252648.1:p.Arg231Cys",
        "hgvsWellDefined": "XP_005252648.1:p.Arg231Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1366,
          "referenceAllele": "C",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_006717502.2:c.1351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717565.1:p.Arg451Cys",
        "hgvsWellDefined": "XP_006717565.1:p.Arg451Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1539,
          "referenceAllele": "C",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_011519659.1:c.1297C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517961.1:p.Arg433Cys",
        "hgvsWellDefined": "XP_011517961.1:p.Arg433Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2082,
          "referenceAllele": "C",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_011519660.1:c.1252C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517962.1:p.Arg418Cys",
        "hgvsWellDefined": "XP_011517962.1:p.Arg418Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827282566",
      "coordinates": [
        {
          "allele": "T",
          "end": 1955,
          "referenceAllele": "C",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001330060.1:c.1252C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316989.1:p.Arg418Cys",
        "hgvsWellDefined": "NP_001316989.1:p.Arg418Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_005252588.4:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252645.1:p.Arg425Cys",
        "hgvsWellDefined": "XP_005252645.1:p.Arg425Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_005252591.3:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252648.1:p.Arg231Cys",
        "hgvsWellDefined": "XP_005252648.1:p.Arg231Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_006717502.3:c.1351C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717565.1:p.Arg451Cys",
        "hgvsWellDefined": "XP_006717565.1:p.Arg451Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1539,
          "referenceAllele": "C",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_011519659.2:c.1297C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517961.1:p.Arg433Cys",
        "hgvsWellDefined": "XP_011517961.1:p.Arg433Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XM_017016625.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872114.1:p.Arg231Cys",
        "hgvsWellDefined": "XP_016872114.1:p.Arg231Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2423,
          "endIntronDirection": "+",
          "endIntronOffset": 2797,
          "referenceAllele": "G",
          "start": 2423,
          "startIntronDirection": "+",
          "startIntronOffset": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023529",
      "geneNCBI_id": 221078,
      "geneSymbol": "NSUN6",
      "hgvs": [
        "XR_001747060.1:n.2423+2797G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "XR_001747198.1:n.1656C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825250079",
      "coordinates": [
        {
          "allele": "T",
          "end": 1914,
          "referenceAllele": "C",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_000724.4:c.1366C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000715.2:p.Arg456Cys",
        "hgvsWellDefined": "NP_000715.2:p.Arg456Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826051566",
      "coordinates": [
        {
          "allele": "T",
          "end": 2089,
          "referenceAllele": "C",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001167945.2:c.1333C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161417.1:p.Arg445Cys",
        "hgvsWellDefined": "NP_001161417.1:p.Arg445Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827282566",
      "coordinates": [
        {
          "allele": "T",
          "end": 1800,
          "referenceAllele": "C",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_001330060.2:c.1252C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316989.1:p.Arg418Cys",
        "hgvsWellDefined": "NP_001316989.1:p.Arg418Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830463954",
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201570.3:c.1387C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963864.1:p.Arg463Cys",
        "hgvsWellDefined": "NP_963864.1:p.Arg463Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830464787",
      "coordinates": [
        {
          "allele": "T",
          "end": 2203,
          "referenceAllele": "C",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201571.4:c.1447C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963865.2:p.Arg483Cys",
        "hgvsWellDefined": "NP_963865.2:p.Arg483Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830465604",
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201572.4:c.1375C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963866.2:p.Arg459Cys",
        "hgvsWellDefined": "NP_963866.2:p.Arg459Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830466663",
      "coordinates": [
        {
          "allele": "T",
          "end": 1587,
          "referenceAllele": "C",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201590.3:c.1369C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963884.2:p.Arg457Cys",
        "hgvsWellDefined": "NP_963884.2:p.Arg457Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701580",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377329.10:c.1369C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201590.3:c.1369C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366546.4:p.Arg457Cys"
          },
          "RefSeq": {
            "hgvs": "NP_963884.2:p.Arg457Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830467527",
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201593.3:c.1417C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963887.2:p.Arg473Cys",
        "hgvsWellDefined": "NP_963887.2:p.Arg473Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573316367",
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201596.3:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963890.2:p.Arg511Cys",
        "hgvsWellDefined": "NP_963890.2:p.Arg511Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324631.13:c.1531C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201596.3:c.1531C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320025.8:p.Arg511Cys"
          },
          "RefSeq": {
            "hgvs": "NP_963890.2:p.Arg511Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830469507",
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "C",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NM_201597.3:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_963891.1:p.Arg487Cys",
        "hgvsWellDefined": "NP_963891.1:p.Arg487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701584"
    }
  ],
  "type": "nucleotide"
}