{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1828292773",
  "communityStandardTitle": [
    "NM_133497.4(KCNV2):c.1376G= (p.Gly459=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894115",
        "rs": 104894115
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 2729465,
          "referenceAllele": "G",
          "start": 2729464
        }
      ],
      "hgvs": [
        "NC_000009.12:g.2729465G=",
        "CM000671.2:g.2729465G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 2729465,
          "referenceAllele": "G",
          "start": 2729464
        }
      ],
      "hgvs": [
        "NC_000009.11:g.2729465G=",
        "CM000671.1:g.2729465G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 2719465,
          "referenceAllele": "G",
          "start": 2719464
        }
      ],
      "hgvs": [
        "NC_000009.10:g.2719465G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16940,
          "referenceAllele": "G",
          "start": 16939
        }
      ],
      "hgvs": [
        "NG_012181.1:g.16940G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002264"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "ENST00000382082.4:c.1376G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371514.3:p.Gly459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752617",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382082.4:c.1376G="
          },
          "RefSeq": {
            "hgvs": "NM_133497.4:c.1376G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371514.3:p.Gly459="
          },
          "RefSeq": {
            "hgvs": "NP_598004.1:p.Gly459="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1614,
          "referenceAllele": "G",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "ENST00000382082.3:c.1376G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371514.3:p.Gly459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "endIntronDirection": "-",
          "endIntronOffset": 8932,
          "referenceAllele": "C",
          "start": 276,
          "startIntronDirection": "-",
          "startIntronOffset": 8933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029676",
      "geneNCBI_id": 9933,
      "geneSymbol": "PUM3",
      "hgvs": [
        "ENST00000490444.2:c.277-8933C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474467.1:n.277-8933C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621991",
      "coordinates": [
        {
          "allele": "G",
          "end": 1590,
          "referenceAllele": "G",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "NM_133497.3:c.1376G="
      ],
      "proteinEffect": {
        "hgvs": "NP_598004.1:p.Gly459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2021,
          "referenceAllele": "G",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "XR_929202.1:n.2021G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075621991",
      "coordinates": [
        {
          "allele": "G",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "NM_133497.4:c.1376G="
      ],
      "proteinEffect": {
        "hgvs": "NP_598004.1:p.Gly459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382082.4:c.1376G="
          },
          "RefSeq": {
            "hgvs": "NM_133497.4:c.1376G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371514.3:p.Gly459="
          },
          "RefSeq": {
            "hgvs": "NP_598004.1:p.Gly459="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}