{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252229",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17393[alleleid]",
        "alleleId": 17393,
        "preferredName": "NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2354",
        "RCV": [
          "RCV000002448"
        ],
        "variationId": 2354
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-216538300-A-C",
        "id": "1-216538300-A-C",
        "variant": "1:216538300 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.216538300A>C?assembly=hg19",
        "id": "chr1:g.216538300A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.216364958A>C?assembly=hg38",
        "id": "chr1:g.216364958A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912598",
        "rs": 121912598
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216538300-A-C?dataset=gnomad_r2_1",
        "id": "1-216538300-A-C",
        "variant": "1:216538300 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216364958-A-C?dataset=gnomad_r4",
        "id": "1-216364958-A-C",
        "variant": "1:216364958 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 216364958,
          "referenceAllele": "A",
          "start": 216364957
        }
      ],
      "hgvs": [
        "NC_000001.11:g.216364958A>C",
        "CM000663.2:g.216364958A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 216538300,
          "referenceAllele": "A",
          "start": 216538299
        }
      ],
      "hgvs": [
        "NC_000001.10:g.216538300A>C",
        "CM000663.1:g.216538300A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 214604923,
          "referenceAllele": "A",
          "start": 214604922
        }
      ],
      "hgvs": [
        "NC_000001.9:g.214604923A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63439,
          "referenceAllele": "T",
          "start": 63438
        }
      ],
      "hgvs": [
        "NG_009497.1:g.63439T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63491,
          "referenceAllele": "T",
          "start": 63490
        }
      ],
      "hgvs": [
        "NG_009497.2:g.63491T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "referenceAllele": "T",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.779T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Leu260Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.779T>G"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.779T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Leu260Ter"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Leu260Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "referenceAllele": "T",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.779T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:p.Leu260Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1166,
          "referenceAllele": "T",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.779T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Leu260Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1166,
          "referenceAllele": "T",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000366942.3:c.779T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355909.3:p.Leu260Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266105"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1166,
          "referenceAllele": "T",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_007123.5:c.779T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009054.5:p.Leu260Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1166,
          "referenceAllele": "T",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.779T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Leu260Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "referenceAllele": "T",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.779T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Leu260Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "referenceAllele": "T",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_007123.6:c.779T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009054.6:p.Leu260Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1218,
          "referenceAllele": "T",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.779T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Leu260Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.779T>G"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.779T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Leu260Ter"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Leu260Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}