{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1630847775",
  "communityStandardTitle": [
    "NM_133497.4(KCNV2):c.-42C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7029012",
        "rs": 7029012
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 2717698,
          "referenceAllele": "C",
          "start": 2717697
        }
      ],
      "hgvs": [
        "NC_000009.12:g.2717698C=",
        "CM000671.2:g.2717698C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 2717698,
          "referenceAllele": "C",
          "start": 2717697
        }
      ],
      "hgvs": [
        "NC_000009.11:g.2717698C=",
        "CM000671.1:g.2717698C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 2707698,
          "referenceAllele": "C",
          "start": 2707697
        }
      ],
      "hgvs": [
        "NC_000009.10:g.2707698C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5173,
          "referenceAllele": "C",
          "start": 5172
        }
      ],
      "hgvs": [
        "NG_012181.1:g.5173C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002264"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "ENST00000382082.4:c.-42C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371514.3:n.-42C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752617",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382082.4:c.-42C="
          },
          "RefSeq": {
            "hgvs": "NM_133497.4:c.-42C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371514.3:n.-42C="
          },
          "RefSeq": {
            "hgvs": "NP_598004.1:n.-42C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "ENST00000382082.3:c.-42C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371514.3:n.-42C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "C",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "NM_133497.3:c.-42C="
      ],
      "proteinEffect": {
        "hgvs": "NP_598004.1:n.-42C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "XR_929202.1:n.460C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "XR_929203.1:n.460C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "NM_133497.4:c.-42C="
      ],
      "proteinEffect": {
        "hgvs": "NP_598004.1:n.-42C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382082.4:c.-42C="
          },
          "RefSeq": {
            "hgvs": "NM_133497.4:c.-42C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371514.3:n.-42C="
          },
          "RefSeq": {
            "hgvs": "NP_598004.1:n.-42C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}