{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA494173490",
  "communityStandardTitle": [
    "NM_024675.4(PALB2):c.3549C>T (p.Tyr1183=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=818443[alleleid]",
        "alleleId": 818443,
        "preferredName": "NM_024675.4(PALB2):c.3549C>T (p.Tyr1183=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/830211",
        "RCV": [
          "RCV001030424"
        ],
        "variationId": 830211
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23614792G>A?assembly=hg19",
        "id": "chr16:g.23614792G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203998",
        "rs": 118203998
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 23603471,
          "referenceAllele": "G",
          "start": 23603470
        }
      ],
      "hgvs": [
        "NC_000016.10:g.23603471G>A",
        "CM000678.2:g.23603471G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 23614792,
          "referenceAllele": "G",
          "start": 23614791
        }
      ],
      "hgvs": [
        "NC_000016.9:g.23614792G>A",
        "CM000678.1:g.23614792G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 23522293,
          "referenceAllele": "G",
          "start": 23522292
        }
      ],
      "hgvs": [
        "NC_000016.8:g.23522293G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42887,
          "referenceAllele": "C",
          "start": 42886
        }
      ],
      "hgvs": [
        "NG_007406.1:g.42887C>T",
        "LRG_308:g.42887C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4554,
          "referenceAllele": "C",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.3:c.3555C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.3:p.Tyr1185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.2:c.*1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459882.2:n.*1034C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3539,
          "referenceAllele": "C",
          "start": 3538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.6:c.*184C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459237.2:n.*184C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3786,
          "referenceAllele": "C",
          "start": 3785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.2:c.3393C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.2:p.Tyr1131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3854,
          "referenceAllele": "C",
          "start": 3853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.2:c.3555C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.2:p.Tyr1185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4554,
          "referenceAllele": "C",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.2:c.2664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.2:p.Tyr888="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4072,
          "referenceAllele": "C",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697374.1:c.2664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513284.1:p.Tyr888="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4896,
          "referenceAllele": "C",
          "start": 4895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697375.1:n.4896C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3702,
          "referenceAllele": "C",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697376.1:c.*184C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513285.1:n.*184C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3786,
          "referenceAllele": "C",
          "start": 3785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.1:c.2502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.1:p.Tyr834="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4069,
          "referenceAllele": "C",
          "start": 4068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697378.1:n.4069C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3854,
          "referenceAllele": "C",
          "start": 3853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.1:c.2664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.1:p.Tyr888="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "referenceAllele": "C",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697380.1:n.2753C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2244,
          "referenceAllele": "C",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697381.1:n.2244C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4489,
          "referenceAllele": "C",
          "start": 4488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697382.1:c.*326C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513288.1:n.*326C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697383.1:c.1083C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513289.1:p.Tyr361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3702,
          "referenceAllele": "C",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.9:c.3549C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Tyr1183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.3549C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.3549C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Tyr1183="
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Tyr1183="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3702,
          "referenceAllele": "C",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.8:c.3549C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Tyr1183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.5:c.315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3660,
          "referenceAllele": "C",
          "start": 3659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000568219.5:c.2664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454703.2:p.Tyr888="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830040370",
      "coordinates": [
        {
          "allele": "T",
          "end": 3749,
          "referenceAllele": "C",
          "start": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.3:c.3549C>T",
        "LRG_308t1:c.3549C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Tyr1183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4344,
          "referenceAllele": "C",
          "start": 4343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.1:c.3555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Tyr1185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4196,
          "referenceAllele": "C",
          "start": 4195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.1:c.*184C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:n.*184C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3805,
          "referenceAllele": "C",
          "start": 3804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.1:c.2664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:p.Tyr888="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4257,
          "referenceAllele": "C",
          "start": 4256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XR_950851.1:n.4257C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4554,
          "referenceAllele": "C",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.2:c.3555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Tyr1185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4370,
          "referenceAllele": "C",
          "start": 4369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.2:c.*184C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:n.*184C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3841,
          "referenceAllele": "C",
          "start": 3840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.2:c.2664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:p.Tyr888="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4282,
          "referenceAllele": "C",
          "start": 4281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023671.1:c.3318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879160.1:p.Tyr1106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3492,
          "referenceAllele": "C",
          "start": 3491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023672.2:c.3312C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879161.1:p.Tyr1104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3580,
          "referenceAllele": "C",
          "start": 3579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023673.2:c.*184C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879162.1:n.*184C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830040370",
      "coordinates": [
        {
          "allele": "T",
          "end": 3702,
          "referenceAllele": "C",
          "start": 3701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.3549C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Tyr1183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.3549C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.3549C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Tyr1183="
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Tyr1183="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}