{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2238901503",
  "communityStandardTitle": [
    "NM_031476.4(CRISPLD2):c.869G= (p.Cys290=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148934412",
        "rs": 148934412
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 84868866,
          "referenceAllele": "G",
          "start": 84868865
        }
      ],
      "hgvs": [
        "NC_000016.10:g.84868866G=",
        "CM000678.2:g.84868866G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 84902472,
          "referenceAllele": "G",
          "start": 84902471
        }
      ],
      "hgvs": [
        "NC_000016.9:g.84902472G=",
        "CM000678.1:g.84902472G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 83459973,
          "referenceAllele": "G",
          "start": 83459972
        }
      ],
      "hgvs": [
        "NC_000016.8:g.83459973G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025248",
      "geneNCBI_id": 83716,
      "geneSymbol": "CRISPLD2",
      "hgvs": [
        "ENST00000262424.10:c.869G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262424.5:p.Cys290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742339",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262424.10:c.869G="
          },
          "RefSeq": {
            "hgvs": "NM_031476.4:c.869G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262424.5:p.Cys290="
          },
          "RefSeq": {
            "hgvs": "NP_113664.1:p.Cys290="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025248",
      "geneNCBI_id": 83716,
      "geneSymbol": "CRISPLD2",
      "hgvs": [
        "ENST00000262424.9:c.869G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262424.5:p.Cys290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025248",
      "geneNCBI_id": 83716,
      "geneSymbol": "CRISPLD2",
      "hgvs": [
        "ENST00000563066.5:c.398G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456952.1:p.Cys133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025248",
      "geneNCBI_id": 83716,
      "geneSymbol": "CRISPLD2",
      "hgvs": [
        "ENST00000564567.5:c.869G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457655.1:p.Cys290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025248",
      "geneNCBI_id": 83716,
      "geneSymbol": "CRISPLD2",
      "hgvs": [
        "ENST00000567845.5:c.866G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457183.1:p.Cys289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025248",
      "geneNCBI_id": 83716,
      "geneSymbol": "CRISPLD2",
      "hgvs": [
        "ENST00000569262.5:n.1060G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082845265",
      "coordinates": [
        {
          "allele": "G",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025248",
      "geneNCBI_id": 83716,
      "geneSymbol": "CRISPLD2",
      "hgvs": [
        "NM_031476.3:c.869G="
      ],
      "proteinEffect": {
        "hgvs": "NP_113664.1:p.Cys290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025248",
      "geneNCBI_id": 83716,
      "geneSymbol": "CRISPLD2",
      "hgvs": [
        "XM_005256190.1:c.869G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005256247.1:p.Cys290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025248",
      "geneNCBI_id": 83716,
      "geneSymbol": "CRISPLD2",
      "hgvs": [
        "XM_024450463.1:c.869G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306231.1:p.Cys290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082845265",
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "G",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025248",
      "geneNCBI_id": 83716,
      "geneSymbol": "CRISPLD2",
      "hgvs": [
        "NM_031476.4:c.869G="
      ],
      "proteinEffect": {
        "hgvs": "NP_113664.1:p.Cys290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671130",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262424.10:c.869G="
          },
          "RefSeq": {
            "hgvs": "NM_031476.4:c.869G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262424.5:p.Cys290="
          },
          "RefSeq": {
            "hgvs": "NP_113664.1:p.Cys290="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}