{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2122857",
  "communityStandardTitle": [
    "NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=366375[alleleid]",
        "alleleId": 366375,
        "preferredName": "NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377779",
        "RCV": [
          "RCV000530812",
          "RCV001173149",
          "RCV001705566",
          "RCV002418248",
          "RCV003912612"
        ],
        "variationId": 377779
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-220146459-C-T",
        "id": "2-220146459-C-T",
        "variant": "2:220146459 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220146459C>T?assembly=hg19",
        "id": "chr2:g.220146459C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220146459_220146468delinsTGACCGCTAT?assembly=hg19",
        "id": "chr2:g.220146459_220146468delinsTGACCGCTAT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219281737C>T?assembly=hg38",
        "id": "chr2:g.219281737C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219281737_219281746delinsTGACCGCTAT?assembly=hg38",
        "id": "chr2:g.219281737_219281746delinsTGACCGCTAT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116719245",
        "rs": 116719245
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-220146459-C-T?dataset=gnomad_r2_1",
        "id": "2-220146459-C-T",
        "variant": "2:220146459 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219281737-C-T?dataset=gnomad_r3",
        "id": "2-219281737-C-T",
        "variant": "2:219281737 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219281737-C-T?dataset=gnomad_r4",
        "id": "2-219281737-C-T",
        "variant": "2:219281737 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219281737,
          "referenceAllele": "C",
          "start": 219281736
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219281737C>T",
        "CM000664.2:g.219281737C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 220146459,
          "referenceAllele": "C",
          "start": 220146458
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220146459C>T",
        "CM000664.1:g.220146459C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219854703,
          "referenceAllele": "C",
          "start": 219854702
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219854703C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7420,
          "referenceAllele": "C",
          "start": 7419
        }
      ],
      "hgvs": [
        "NG_029553.1:g.7420C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004483"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000683651.1:n.898C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000684599.1:n.402C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000336576.10:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338019.5:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747592",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336576.10:c.195C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006736.6:c.195C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338019.5:p.Tyr65="
          },
          "RefSeq": {
            "hgvs": "NP_006727.2:p.Tyr65="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000336576.9:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338019.5:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000392086.8:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375936.4:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "C",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000392087.6:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375937.2:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000421532.5:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395173.1:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "referenceAllele": "C",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000425450.5:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414796.1:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000439026.1:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387951.1:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000442681.5:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392790.1:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 186,
          "referenceAllele": "C",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000463463.5:n.186C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000477917.5:n.1413C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000480537.5:n.383C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 95,
          "referenceAllele": "C",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "ENST00000487855.1:n.95C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825384837",
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "NM_001039550.1:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034639.1:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829655368",
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "NM_006736.5:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006727.2:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825384837",
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "NM_001039550.2:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034639.1:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829655368",
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005228",
      "geneNCBI_id": 3300,
      "geneSymbol": "DNAJB2",
      "hgvs": [
        "NM_006736.6:c.195C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006727.2:p.Tyr65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336576.10:c.195C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006736.6:c.195C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338019.5:p.Tyr65="
          },
          "RefSeq": {
            "hgvs": "NP_006727.2:p.Tyr65="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}