{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1829649996",
  "communityStandardTitle": [
    "NM_004972.4(JAK2):c.1641+997G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10119004",
        "rs": 10119004
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 5071049,
          "referenceAllele": "G",
          "start": 5071048
        }
      ],
      "hgvs": [
        "NC_000009.12:g.5071049G=",
        "CM000671.2:g.5071049G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 5071049,
          "referenceAllele": "G",
          "start": 5071048
        }
      ],
      "hgvs": [
        "NC_000009.11:g.5071049G=",
        "CM000671.1:g.5071049G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 5061049,
          "referenceAllele": "G",
          "start": 5061048
        }
      ],
      "hgvs": [
        "NC_000009.10:g.5061049G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 90805,
          "referenceAllele": "G",
          "start": 90804
        }
      ],
      "hgvs": [
        "NG_009904.1:g.90805G=",
        "LRG_612:g.90805G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 119662,
          "referenceAllele": "C",
          "start": 119661
        }
      ],
      "hgvs": [
        "NG_046969.1:g.119662C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2108,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2108,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "ENST00000381652.4:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371067.4:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381652.4:c.1641+997G="
          },
          "RefSeq": {
            "hgvs": "NM_004972.4:c.1641+997G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371067.4:n.1641+997G="
          },
          "RefSeq": {
            "hgvs": "NP_004963.1:n.1641+997G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2125,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "ENST00000636127.1:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489812.1:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762891"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2135,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "ENST00000381652.3:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371067.3:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2135,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_004972.3:c.1641+997G=",
        "LRG_612t1:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004963.1:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 55704,
          "referenceAllele": "C",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 55705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006089",
      "geneNCBI_id": 11172,
      "geneSymbol": "INSL6",
      "hgvs": [
        "XM_011517701.1:c.377-55705C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516003.1:n.377-55705C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 78615,
          "referenceAllele": "C",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 78616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006089",
      "geneNCBI_id": 11172,
      "geneSymbol": "INSL6",
      "hgvs": [
        "XM_011517702.1:c.377-78616C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516004.1:n.377-78616C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 55704,
          "referenceAllele": "C",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 55705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006089",
      "geneNCBI_id": 11172,
      "geneSymbol": "INSL6",
      "hgvs": [
        "XR_929169.1:n.485-55705C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2236,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2236,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322194.1:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309123.1:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1754,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 1754,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322195.1:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309124.1:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2067,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2067,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322196.1:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309125.1:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2055,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2055,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322198.1:c.426+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309127.1:n.426+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1997,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 1997,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322199.1:c.426+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309128.1:n.426+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1506,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 1506,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322204.1:c.1194+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309133.1:n.1194+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "endIntronDirection": "-",
          "endIntronOffset": 78615,
          "referenceAllele": "C",
          "start": 481,
          "startIntronDirection": "-",
          "startIntronOffset": 78616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006089",
      "geneNCBI_id": 11172,
      "geneSymbol": "INSL6",
      "hgvs": [
        "XM_011517702.3:c.377-78616C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516004.1:n.377-78616C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2108,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2108,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_004972.4:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004963.1:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000381652.4:c.1641+997G="
          },
          "RefSeq": {
            "hgvs": "NM_004972.4:c.1641+997G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371067.4:n.1641+997G="
          },
          "RefSeq": {
            "hgvs": "NP_004963.1:n.1641+997G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2236,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2236,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322194.2:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309123.1:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1754,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 1754,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322195.2:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309124.1:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2025,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2025,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322196.2:c.1641+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309125.1:n.1641+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2013,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2013,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322198.2:c.426+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309127.1:n.426+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 1955,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322199.2:c.426+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309128.1:n.426+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1667,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 1667,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NM_001322204.2:c.1194+997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309133.1:n.1194+997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2125,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NR_169763.1:n.2125+997G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2042,
          "endIntronDirection": "+",
          "endIntronOffset": 997,
          "referenceAllele": "G",
          "start": 2042,
          "startIntronDirection": "+",
          "startIntronOffset": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NR_169764.1:n.2042+997G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732330"
    }
  ],
  "type": "nucleotide"
}