{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10612653",
  "communityStandardTitle": [
    "NM_015040.4(PIKFYVE):c.*2549G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=285042[alleleid]",
        "alleleId": 285042,
        "preferredName": "NM_015040.4(PIKFYVE):c.*2549G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/333974",
        "RCV": [
          "RCV000347332"
        ],
        "variationId": 333974
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.209222578G>A?assembly=hg19",
        "id": "chr2:g.209222578G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.208357854G>A?assembly=hg38",
        "id": "chr2:g.208357854G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16841092",
        "rs": 16841092
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-209222578-G-A?dataset=gnomad_r2_1",
        "id": "2-209222578-G-A",
        "variant": "2:209222578 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-208357854-G-A?dataset=gnomad_r3",
        "id": "2-208357854-G-A",
        "variant": "2:208357854 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-208357854-G-A?dataset=gnomad_r4",
        "id": "2-208357854-G-A",
        "variant": "2:208357854 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 208357854,
          "referenceAllele": "G",
          "start": 208357853
        }
      ],
      "hgvs": [
        "NC_000002.12:g.208357854G>A",
        "CM000664.2:g.208357854G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 209222578,
          "referenceAllele": "G",
          "start": 209222577
        }
      ],
      "hgvs": [
        "NC_000002.11:g.209222578G>A",
        "CM000664.1:g.209222578G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 208930823,
          "referenceAllele": "G",
          "start": 208930822
        }
      ],
      "hgvs": [
        "NC_000002.10:g.208930823G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96588,
          "referenceAllele": "G",
          "start": 96587
        }
      ],
      "hgvs": [
        "NG_021188.1:g.96588G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003467"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9016,
          "referenceAllele": "G",
          "start": 9015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "ENST00000264380.9:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264380.4:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742666",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264380.9:c.*2549G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015040.4:c.*2549G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264380.4:n.*2549G>A"
          },
          "RefSeq": {
            "hgvs": "NP_055855.2:n.*2549G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9004,
          "referenceAllele": "G",
          "start": 9003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "ENST00000264380.8:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264380.4:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9004,
          "referenceAllele": "G",
          "start": 9003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "NM_015040.3:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055855.2:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9017,
          "referenceAllele": "G",
          "start": 9016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510778.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509080.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9412,
          "referenceAllele": "G",
          "start": 9411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510779.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509081.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9014,
          "referenceAllele": "G",
          "start": 9013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510780.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509082.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8999,
          "referenceAllele": "G",
          "start": 8998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510781.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509083.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8853,
          "referenceAllele": "G",
          "start": 8852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510782.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509084.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8849,
          "referenceAllele": "G",
          "start": 8848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510783.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509085.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8846,
          "referenceAllele": "G",
          "start": 8845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510784.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509086.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8831,
          "referenceAllele": "G",
          "start": 8830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510785.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509087.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8726,
          "referenceAllele": "G",
          "start": 8725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510786.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509088.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8730,
          "referenceAllele": "G",
          "start": 8729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510787.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509089.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8713,
          "referenceAllele": "G",
          "start": 8712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510788.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509090.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8539,
          "referenceAllele": "G",
          "start": 8538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510789.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509091.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8832,
          "referenceAllele": "G",
          "start": 8831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510790.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509092.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8115,
          "referenceAllele": "G",
          "start": 8114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510791.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509093.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9063,
          "referenceAllele": "G",
          "start": 9062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510778.3:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509080.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8987,
          "referenceAllele": "G",
          "start": 8986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510779.2:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509081.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9072,
          "referenceAllele": "G",
          "start": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510780.2:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509082.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9045,
          "referenceAllele": "G",
          "start": 9044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510781.3:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509083.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8898,
          "referenceAllele": "G",
          "start": 8897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510782.3:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509084.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8895,
          "referenceAllele": "G",
          "start": 8894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510783.3:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509085.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8904,
          "referenceAllele": "G",
          "start": 8903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510784.2:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509086.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8877,
          "referenceAllele": "G",
          "start": 8876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510785.3:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509087.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8773,
          "referenceAllele": "G",
          "start": 8772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510786.3:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509088.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8535,
          "referenceAllele": "G",
          "start": 8534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_011510789.2:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509091.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8890,
          "referenceAllele": "G",
          "start": 8889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_017003568.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859057.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8722,
          "referenceAllele": "G",
          "start": 8721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_017003569.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859058.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8571,
          "referenceAllele": "G",
          "start": 8570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_017003570.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859059.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8367,
          "referenceAllele": "G",
          "start": 8366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_017003571.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859060.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8708,
          "referenceAllele": "G",
          "start": 8707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_017003572.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859061.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8416,
          "referenceAllele": "G",
          "start": 8415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_017003573.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859062.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8087,
          "referenceAllele": "G",
          "start": 8086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "XM_017003574.1:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859063.1:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9016,
          "referenceAllele": "G",
          "start": 9015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023785",
      "geneNCBI_id": 200576,
      "geneSymbol": "PIKFYVE",
      "hgvs": [
        "NM_015040.4:c.*2549G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055855.2:n.*2549G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668609",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264380.9:c.*2549G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015040.4:c.*2549G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264380.4:n.*2549G>A"
          },
          "RefSeq": {
            "hgvs": "NP_055855.2:n.*2549G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}