{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1220463649",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.7595-2A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795047",
        "rs": 1064795047
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 215889056,
          "referenceAllele": "T",
          "start": 215889055
        }
      ],
      "hgvs": [
        "NC_000001.11:g.215889056T=",
        "CM000663.2:g.215889056T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 216062398,
          "referenceAllele": "T",
          "start": 216062397
        }
      ],
      "hgvs": [
        "NC_000001.10:g.216062398T=",
        "CM000663.1:g.216062398T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 214129021,
          "referenceAllele": "T",
          "start": 214129020
        }
      ],
      "hgvs": [
        "NC_000001.9:g.214129021T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 539341,
          "referenceAllele": "A",
          "start": 539340
        }
      ],
      "hgvs": [
        "NG_009497.1:g.539341A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 539393,
          "referenceAllele": "A",
          "start": 539392
        }
      ],
      "hgvs": [
        "NG_009497.2:g.539393A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8033,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 8033,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.7595-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:n.7595-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.7595-2A="
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.7595-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:n.7595-2A="
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:n.7595-2A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8033,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 8033,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.7595-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:n.7595-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7981,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 7981,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.7595-2A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:n.7595-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7981,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 7981,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.7595-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:n.7595-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8033,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 8033,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.7595-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:n.7595-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8033,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 8033,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.7595-2A="
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:n.7595-2A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.7595-2A="
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.7595-2A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:n.7595-2A="
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:n.7595-2A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}