{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA149457",
  "communityStandardTitle": [
    "NM_133497.4(KCNV2):c.183C>G (p.Gly61=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3763866",
        "active": true,
        "id": "COSM3763866"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=102251[alleleid]",
        "alleleId": 102251,
        "preferredName": "NM_133497.4(KCNV2):c.183C>G (p.Gly61=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96357",
        "RCV": [
          "RCV000082506",
          "RCV000384481",
          "RCV001522547"
        ],
        "variationId": 96357
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-2717922-C-G",
        "id": "9-2717922-C-G",
        "variant": "9:2717922 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.2717922C>G?assembly=hg19",
        "id": "chr9:g.2717922C>G"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.2717922_2717925delinsGGAG?assembly=hg19",
        "id": "chr9:g.2717922_2717925delinsGGAG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.2717922C>G?assembly=hg38",
        "id": "chr9:g.2717922C>G"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.2717922_2717925delinsGGAG?assembly=hg38",
        "id": "chr9:g.2717922_2717925delinsGGAG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10967705",
        "rs": 10967705
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-2717922-C-G?dataset=gnomad_r2_1",
        "id": "9-2717922-C-G",
        "variant": "9:2717922 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-2717922-C-G?dataset=gnomad_r3",
        "id": "9-2717922-C-G",
        "variant": "9:2717922 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-2717922-C-G?dataset=gnomad_r4",
        "id": "9-2717922-C-G",
        "variant": "9:2717922 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 2717922,
          "referenceAllele": "C",
          "start": 2717921
        }
      ],
      "hgvs": [
        "NC_000009.12:g.2717922C>G",
        "CM000671.2:g.2717922C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 2717922,
          "referenceAllele": "C",
          "start": 2717921
        }
      ],
      "hgvs": [
        "NC_000009.11:g.2717922C>G",
        "CM000671.1:g.2717922C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 2707922,
          "referenceAllele": "C",
          "start": 2707921
        }
      ],
      "hgvs": [
        "NC_000009.10:g.2707922C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5397,
          "referenceAllele": "C",
          "start": 5396
        }
      ],
      "hgvs": [
        "NG_012181.1:g.5397C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002264"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "ENST00000382082.4:c.183C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371514.3:p.Gly61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752617",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382082.4:c.183C>G"
          },
          "RefSeq": {
            "hgvs": "NM_133497.4:c.183C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371514.3:p.Gly61="
          },
          "RefSeq": {
            "hgvs": "NP_598004.1:p.Gly61="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "C",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "ENST00000382082.3:c.183C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371514.3:p.Gly61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245195",
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "NM_133497.3:c.183C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_598004.1:p.Gly61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "XR_929202.1:n.684C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "XR_929203.1:n.684C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125468"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245195",
      "coordinates": [
        {
          "allele": "G",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019698",
      "geneNCBI_id": 169522,
      "geneSymbol": "KCNV2",
      "hgvs": [
        "NM_133497.4:c.183C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_598004.1:p.Gly61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382082.4:c.183C>G"
          },
          "RefSeq": {
            "hgvs": "NM_133497.4:c.183C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371514.3:p.Gly61="
          },
          "RefSeq": {
            "hgvs": "NP_598004.1:p.Gly61="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}