{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA143566",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57728[alleleid]",
        "alleleId": 57728,
        "preferredName": "NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48566",
        "RCV": [
          "RCV000041892",
          "RCV000923089",
          "RCV001826600",
          "RCV003450878",
          "RCV003888403"
        ],
        "variationId": 48566
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-216166484-A-T",
        "id": "1-216166484-A-T",
        "variant": "1:216166484 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.216166484A>T?assembly=hg19",
        "id": "chr1:g.216166484A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215993142A>T?assembly=hg38",
        "id": "chr1:g.215993142A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/117461552",
        "rs": 117461552
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216166484-A-T?dataset=gnomad_r2_1",
        "id": "1-216166484-A-T",
        "variant": "1:216166484 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-215993142-A-T?dataset=gnomad_r3",
        "id": "1-215993142-A-T",
        "variant": "1:215993142 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-215993142-A-T?dataset=gnomad_r4",
        "id": "1-215993142-A-T",
        "variant": "1:215993142 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 215993142,
          "referenceAllele": "A",
          "start": 215993141
        }
      ],
      "hgvs": [
        "NC_000001.11:g.215993142A>T",
        "CM000663.2:g.215993142A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 216166484,
          "referenceAllele": "A",
          "start": 216166483
        }
      ],
      "hgvs": [
        "NC_000001.10:g.216166484A>T",
        "CM000663.1:g.216166484A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 214233107,
          "referenceAllele": "A",
          "start": 214233106
        }
      ],
      "hgvs": [
        "NC_000001.9:g.214233107A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435255,
          "referenceAllele": "T",
          "start": 435254
        }
      ],
      "hgvs": [
        "NG_009497.1:g.435255T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435307,
          "referenceAllele": "T",
          "start": 435306
        }
      ],
      "hgvs": [
        "NG_009497.2:g.435307T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7122,
          "referenceAllele": "T",
          "start": 7121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.6683T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Val2228Glu",
        "hgvsWellDefined": "ENSP00000305941.3:p.Val2228Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.6683T>A"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.6683T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Val2228Glu"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Val2228Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7122,
          "referenceAllele": "T",
          "start": 7121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.6683T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:p.Val2228Glu",
        "hgvsWellDefined": "ENSP00000501296.1:p.Val2228Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7070,
          "referenceAllele": "T",
          "start": 7069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.6683T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Val2228Glu",
        "hgvsWellDefined": "ENSP00000305941.3:p.Val2228Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA143567",
      "coordinates": [
        {
          "allele": "A",
          "end": 7070,
          "referenceAllele": "T",
          "start": 7069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.6683T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Val2228Glu",
        "hgvsWellDefined": "NP_996816.2:p.Val2228Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA143567",
      "coordinates": [
        {
          "allele": "A",
          "end": 7122,
          "referenceAllele": "T",
          "start": 7121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.6683T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Val2228Glu",
        "hgvsWellDefined": "NP_996816.2:p.Val2228Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139763636",
      "coordinates": [
        {
          "allele": "A",
          "end": 7122,
          "referenceAllele": "T",
          "start": 7121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.6683T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Val2228Glu",
        "hgvsWellDefined": "NP_996816.3:p.Val2228Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.6683T>A"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.6683T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Val2228Glu"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Val2228Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}