{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252239",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17398[alleleid]",
        "alleleId": 17398,
        "preferredName": "NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2359",
        "RCV": [
          "RCV000002453",
          "RCV000224697",
          "RCV000504809",
          "RCV000778222",
          "RCV000824795",
          "RCV000984315",
          "RCV001074823",
          "RCV002482817"
        ],
        "variationId": 2359
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-216497582-C-A",
        "id": "1-216497582-C-A",
        "variant": "1:216497582 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.216497582C>A?assembly=hg19",
        "id": "chr1:g.216497582C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.216324240C>A?assembly=hg38",
        "id": "chr1:g.216324240C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912600",
        "rs": 121912600
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216497582-C-A?dataset=gnomad_r2_1",
        "id": "1-216497582-C-A",
        "variant": "1:216497582 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216324240-C-A?dataset=gnomad_r3",
        "id": "1-216324240-C-A",
        "variant": "1:216324240 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-216324240-C-A?dataset=gnomad_r4",
        "id": "1-216324240-C-A",
        "variant": "1:216324240 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 216324240,
          "referenceAllele": "C",
          "start": 216324239
        }
      ],
      "hgvs": [
        "NC_000001.11:g.216324240C>A",
        "CM000663.2:g.216324240C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 216497582,
          "referenceAllele": "C",
          "start": 216497581
        }
      ],
      "hgvs": [
        "NC_000001.10:g.216497582C>A",
        "CM000663.1:g.216497582C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 214564205,
          "referenceAllele": "C",
          "start": 214564204
        }
      ],
      "hgvs": [
        "NC_000001.9:g.214564205C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104157,
          "referenceAllele": "G",
          "start": 104156
        }
      ],
      "hgvs": [
        "NG_009497.1:g.104157G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104209,
          "referenceAllele": "G",
          "start": 104208
        }
      ],
      "hgvs": [
        "NG_009497.2:g.104209G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "G",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.8:c.1256G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Cys419Phe",
        "hgvsWellDefined": "ENSP00000305941.3:p.Cys419Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.1256G>T"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.1256G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Cys419Phe"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Cys419Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "G",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000674083.1:c.1256G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501296.1:p.Cys419Phe",
        "hgvsWellDefined": "ENSP00000501296.1:p.Cys419Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000307340.7:c.1256G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305941.3:p.Cys419Phe",
        "hgvsWellDefined": "ENSP00000305941.3:p.Cys419Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "ENST00000366942.3:c.1256G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355909.3:p.Cys419Phe",
        "hgvsWellDefined": "ENSP00000355909.3:p.Cys419Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_007123.5:c.1256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009054.5:p.Cys419Phe",
        "hgvsWellDefined": "NP_009054.5:p.Cys419Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252240",
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.2:c.1256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Cys419Phe",
        "hgvsWellDefined": "NP_996816.2:p.Cys419Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252240",
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "G",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.3:c.1256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.2:p.Cys419Phe",
        "hgvsWellDefined": "NP_996816.2:p.Cys419Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829688441",
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "G",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_007123.6:c.1256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009054.6:p.Cys419Phe",
        "hgvsWellDefined": "NP_009054.6:p.Cys419Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139762179",
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "G",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.1256G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Cys419Phe",
        "hgvsWellDefined": "NP_996816.3:p.Cys419Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.1256G>T"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.1256G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Cys419Phe"
          },
          "RefSeq": {
            "hgvs": "NP_996816.3:p.Cys419Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}