{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2403994188",
  "communityStandardTitle": [
    "NM_006078.5(CACNG2):c.211+847G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2284018",
        "rs": 2284018
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 36701519,
          "referenceAllele": "C",
          "start": 36701518
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36701519C=",
        "CM000684.2:g.36701519C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 37097564,
          "referenceAllele": "C",
          "start": 37097563
        }
      ],
      "hgvs": [
        "NC_000022.10:g.37097564C=",
        "CM000684.1:g.37097564C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 35427510,
          "referenceAllele": "C",
          "start": 35427509
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35427510C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6127,
          "referenceAllele": "G",
          "start": 6126
        }
      ],
      "hgvs": [
        "NG_031861.1:g.6127G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6340,
          "referenceAllele": "G",
          "start": 6339
        }
      ],
      "hgvs": [
        "NG_031861.2:g.6340G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616327"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "endIntronDirection": "+",
          "endIntronOffset": 847,
          "referenceAllele": "G",
          "start": 1387,
          "startIntronDirection": "+",
          "startIntronOffset": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001406",
      "geneNCBI_id": 10369,
      "geneSymbol": "CACNG2",
      "hgvs": [
        "ENST00000300105.7:c.211+847G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300105.6:n.211+847G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744737",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300105.7:c.211+847G="
          },
          "RefSeq": {
            "hgvs": "NM_006078.5:c.211+847G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300105.6:n.211+847G="
          },
          "RefSeq": {
            "hgvs": "NP_006069.1:n.211+847G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1193,
          "endIntronDirection": "+",
          "endIntronOffset": 847,
          "referenceAllele": "G",
          "start": 1193,
          "startIntronDirection": "+",
          "startIntronOffset": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001406",
      "geneNCBI_id": 10369,
      "geneSymbol": "CACNG2",
      "hgvs": [
        "ENST00000300105.6:c.211+847G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300105.6:n.211+847G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 280,
          "endIntronDirection": "+",
          "endIntronOffset": 847,
          "referenceAllele": "G",
          "start": 280,
          "startIntronDirection": "+",
          "startIntronOffset": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001406",
      "geneNCBI_id": 10369,
      "geneSymbol": "CACNG2",
      "hgvs": [
        "NM_006078.3:c.211+847G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006069.1:n.211+847G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 493,
          "endIntronDirection": "+",
          "endIntronOffset": 847,
          "referenceAllele": "G",
          "start": 493,
          "startIntronDirection": "+",
          "startIntronOffset": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001406",
      "geneNCBI_id": 10369,
      "geneSymbol": "CACNG2",
      "hgvs": [
        "NM_006078.4:c.211+847G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006069.1:n.211+847G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1096,
          "endIntronDirection": "+",
          "endIntronOffset": 847,
          "referenceAllele": "G",
          "start": 1096,
          "startIntronDirection": "+",
          "startIntronOffset": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001406",
      "geneNCBI_id": 10369,
      "geneSymbol": "CACNG2",
      "hgvs": [
        "NM_001379051.1:c.142+847G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365980.1:n.142+847G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "endIntronDirection": "+",
          "endIntronOffset": 847,
          "referenceAllele": "G",
          "start": 1387,
          "startIntronDirection": "+",
          "startIntronOffset": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001406",
      "geneNCBI_id": 10369,
      "geneSymbol": "CACNG2",
      "hgvs": [
        "NM_006078.5:c.211+847G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006069.1:n.211+847G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300105.7:c.211+847G="
          },
          "RefSeq": {
            "hgvs": "NM_006078.5:c.211+847G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300105.6:n.211+847G="
          },
          "RefSeq": {
            "hgvs": "NP_006069.1:n.211+847G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "endIntronDirection": "+",
          "endIntronOffset": 847,
          "referenceAllele": "G",
          "start": 1387,
          "startIntronDirection": "+",
          "startIntronOffset": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001406",
      "geneNCBI_id": 10369,
      "geneSymbol": "CACNG2",
      "hgvs": [
        "NR_166440.1:n.1387+847G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731780"
    }
  ],
  "type": "nucleotide"
}