{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124183",
  "communityStandardTitle": [
    "NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=12600",
        "active": true,
        "id": "COSM12600"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29701[alleleid]",
        "alleleId": 29701,
        "preferredName": "NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14662",
        "RCV": [
          "RCV000015769",
          "RCV000015770",
          "RCV000015771",
          "RCV000015772",
          "RCV000022627",
          "RCV000022628",
          "RCV000428162",
          "RCV000420273",
          "RCV001003804",
          "RCV000427081",
          "RCV001092995",
          "RCV000763621",
          "RCV001003803"
        ],
        "variationId": 14662
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-5073770-G-T",
        "id": "9-5073770-G-T",
        "variant": "9:5073770 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.5073770G>T?assembly=hg19",
        "id": "chr9:g.5073770G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.5073770G>T?assembly=hg38",
        "id": "chr9:g.5073770G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77375493",
        "rs": 77375493
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-5073770-G-T?dataset=gnomad_r2_1",
        "id": "9-5073770-G-T",
        "variant": "9:5073770 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-5073770-G-T?dataset=gnomad_r3",
        "id": "9-5073770-G-T",
        "variant": "9:5073770 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-5073770-G-T?dataset=gnomad_r4",
        "id": "9-5073770-G-T",
        "variant": "9:5073770 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 5073770,
          "referenceAllele": "G",
          "start": 5073769
        }
      ],
      "hgvs": [
        "NC_000009.12:g.5073770G>T",
        "CM000671.2:g.5073770G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 5073770,
          "referenceAllele": "G",
          "start": 5073769
        }
      ],
      "hgvs": [
        "NC_000009.11:g.5073770G>T",
        "CM000671.1:g.5073770G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 5063770,
          "referenceAllele": "G",
          "start": 5063769
        }
      ],
      "hgvs": [
        "NC_000009.10:g.5063770G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93526,
          "referenceAllele": "G",
          "start": 93525
        }
      ],
      "hgvs": [
        "NG_009904.1:g.93526G>T",
        "LRG_612:g.93526G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116941,
          "referenceAllele": "C",
          "start": 116940
        }
      ],
      "hgvs": [
        "NG_046969.1:g.116941C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2316,
          "referenceAllele": "G",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "ENST00000381652.4:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371067.4:p.Val617Phe",
        "hgvsWellDefined": "ENSP00000371067.4:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381652.4:c.1849G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004972.4:c.1849G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371067.4:p.Val617Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004963.1:p.Val617Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2333,
          "referenceAllele": "G",
          "start": 2332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "ENST00000636127.1:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489812.1:p.Val617Phe",
        "hgvsWellDefined": "ENSP00000489812.1:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2343,
          "referenceAllele": "G",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "ENST00000381652.3:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371067.3:p.Val617Phe",
        "hgvsWellDefined": "ENSP00000371067.3:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098794",
      "coordinates": [
        {
          "allele": "T",
          "end": 2343,
          "referenceAllele": "G",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_004972.3:c.1849G>T",
        "LRG_612t1:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004963.1:p.Val617Phe",
        "hgvsWellDefined": "NP_004963.1:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 58425,
          "referenceAllele": "C",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 58426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006089",
      "geneNCBI_id": 11172,
      "geneSymbol": "INSL6",
      "hgvs": [
        "XM_011517701.1:c.377-58426C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516003.1:n.377-58426C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 81336,
          "referenceAllele": "C",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 81337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006089",
      "geneNCBI_id": 11172,
      "geneSymbol": "INSL6",
      "hgvs": [
        "XM_011517702.1:c.377-81337C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516004.1:n.377-81337C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 58425,
          "referenceAllele": "C",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 58426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006089",
      "geneNCBI_id": 11172,
      "geneSymbol": "INSL6",
      "hgvs": [
        "XR_929169.1:n.485-58426C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827150474",
      "coordinates": [
        {
          "allele": "T",
          "end": 2444,
          "referenceAllele": "G",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322194.1:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309123.1:p.Val617Phe",
        "hgvsWellDefined": "NP_001309123.1:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514829"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827150720",
      "coordinates": [
        {
          "allele": "T",
          "end": 1962,
          "referenceAllele": "G",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322195.1:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309124.1:p.Val617Phe",
        "hgvsWellDefined": "NP_001309124.1:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827150965",
      "coordinates": [
        {
          "allele": "T",
          "end": 2275,
          "referenceAllele": "G",
          "start": 2274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322196.1:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309125.1:p.Val617Phe",
        "hgvsWellDefined": "NP_001309125.1:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827151158",
      "coordinates": [
        {
          "allele": "T",
          "end": 2263,
          "referenceAllele": "G",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322198.1:c.634G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309127.1:p.Val212Phe",
        "hgvsWellDefined": "NP_001309127.1:p.Val212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514833"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827151321",
      "coordinates": [
        {
          "allele": "T",
          "end": 2205,
          "referenceAllele": "G",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322199.1:c.634G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309128.1:p.Val212Phe",
        "hgvsWellDefined": "NP_001309128.1:p.Val212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827151573",
      "coordinates": [
        {
          "allele": "T",
          "end": 1714,
          "referenceAllele": "G",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322204.1:c.1402G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309133.1:p.Val468Phe",
        "hgvsWellDefined": "NP_001309133.1:p.Val468Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "endIntronDirection": "-",
          "endIntronOffset": 81336,
          "referenceAllele": "C",
          "start": 481,
          "startIntronDirection": "-",
          "startIntronOffset": 81337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006089",
      "geneNCBI_id": 11172,
      "geneSymbol": "INSL6",
      "hgvs": [
        "XM_011517702.3:c.377-81337C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516004.1:n.377-81337C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098794",
      "coordinates": [
        {
          "allele": "T",
          "end": 2316,
          "referenceAllele": "G",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_004972.4:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004963.1:p.Val617Phe",
        "hgvsWellDefined": "NP_004963.1:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381652.4:c.1849G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004972.4:c.1849G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371067.4:p.Val617Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004963.1:p.Val617Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827150474",
      "coordinates": [
        {
          "allele": "T",
          "end": 2444,
          "referenceAllele": "G",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322194.2:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309123.1:p.Val617Phe",
        "hgvsWellDefined": "NP_001309123.1:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827150720",
      "coordinates": [
        {
          "allele": "T",
          "end": 1962,
          "referenceAllele": "G",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322195.2:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309124.1:p.Val617Phe",
        "hgvsWellDefined": "NP_001309124.1:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827150965",
      "coordinates": [
        {
          "allele": "T",
          "end": 2233,
          "referenceAllele": "G",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322196.2:c.1849G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309125.1:p.Val617Phe",
        "hgvsWellDefined": "NP_001309125.1:p.Val617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827151158",
      "coordinates": [
        {
          "allele": "T",
          "end": 2221,
          "referenceAllele": "G",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322198.2:c.634G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309127.1:p.Val212Phe",
        "hgvsWellDefined": "NP_001309127.1:p.Val212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827151321",
      "coordinates": [
        {
          "allele": "T",
          "end": 2163,
          "referenceAllele": "G",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322199.2:c.634G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309128.1:p.Val212Phe",
        "hgvsWellDefined": "NP_001309128.1:p.Val212Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827151573",
      "coordinates": [
        {
          "allele": "T",
          "end": 1875,
          "referenceAllele": "G",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322204.2:c.1402G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309133.1:p.Val468Phe",
        "hgvsWellDefined": "NP_001309133.1:p.Val468Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2333,
          "referenceAllele": "G",
          "start": 2332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NR_169763.1:n.2333G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2250,
          "referenceAllele": "G",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NR_169764.1:n.2250G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732330"
    }
  ],
  "type": "nucleotide"
}