{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA179586",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.1608C>T (p.Cys536=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172920[alleleid]",
        "alleleId": 172920,
        "preferredName": "NM_206933.4(USH2A):c.1608C>T (p.Cys536=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166524",
        "RCV": [
          "RCV000152632",
          "RCV000941463",
          "RCV001101111",
          "RCV001097357",
          "RCV003888580"
        ],
        "variationId": 166524
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-216495261-G-A",
        "id": "1-216495261-G-A",
        "variant": "1:216495261 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.216495261G>A?assembly=hg19",
        "id": "chr1:g.216495261G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.216321919G>A?assembly=hg38",
        "id": "chr1:g.216321919G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/187380128",
        "rs": 187380128
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216495261-G-A?dataset=gnomad_r2_1",
        "id": "1-216495261-G-A",
        "variant": "1:216495261 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216321919-G-A?dataset=gnomad_r3",
        "id": "1-216321919-G-A",
        "variant": "1:216321919 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216321919-G-A?dataset=gnomad_r4",
        "id": "1-216321919-G-A",
        "variant": "1:216321919 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 216321919,
          "referenceAllele": "G",
          "start": 216321918
        }
      ],
      "hgvs": [
        "NC_000001.11:g.216321919G>A",
        "CM000663.2:g.216321919G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 216495261,
          "referenceAllele": "G",
          "start": 216495260
        }
      ],
      "hgvs": [
        "NC_000001.10:g.216495261G>A",
        "CM000663.1:g.216495261G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 214561884,
          "referenceAllele": "G",
          "start": 214561883
        }
      ],
      "hgvs": [
        "NC_000001.9:g.214561884G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106478,
          "referenceAllele": "C",
          "start": 106477
        }
      ],
      "hgvs": [
        "NG_009497.1:g.106478C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106530,
          "referenceAllele": "C",
          "start": 106529
        }
      ],
      "hgvs": [
        "NG_009497.2:g.106530C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.1608C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Cys536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.1608C>T"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.1608C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Cys536="
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Cys536="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.1608C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:p.Cys536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.1608C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Cys536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000366942.3:c.1608C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355909.3:p.Cys536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_007123.5:c.1608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009054.5:p.Cys536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.1608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Cys536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.1608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Cys536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829688739",
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_007123.6:c.1608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009054.6:p.Cys536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830515266",
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.1608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Cys536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.1608C>T"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.1608C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Cys536="
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Cys536="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}