{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573155514",
  "communityStandardTitle": [
    "NM_003331.5(TYK2):c.3318+17C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1613520[alleleid]",
        "alleleId": 1613520,
        "preferredName": "NM_003331.5(TYK2):c.3318+17C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1615800",
        "RCV": [
          "RCV002074755"
        ],
        "variationId": 1615800
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2145138092",
        "rs": 2145138092
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-10352417-G-T?dataset=gnomad_r4",
        "id": "19-10352417-G-T",
        "variant": "19:10352417 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 10352417,
          "referenceAllele": "G",
          "start": 10352416
        }
      ],
      "hgvs": [
        "NC_000019.10:g.10352417G>T",
        "CM000681.2:g.10352417G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 10463093,
          "referenceAllele": "G",
          "start": 10463092
        }
      ],
      "hgvs": [
        "NC_000019.9:g.10463093G>T",
        "CM000681.1:g.10463093G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 10324093,
          "referenceAllele": "G",
          "start": 10324092
        }
      ],
      "hgvs": [
        "NC_000019.8:g.10324093G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33156,
          "referenceAllele": "C",
          "start": 33155
        }
      ],
      "hgvs": [
        "NG_007872.1:g.33156C>A",
        "LRG_121:g.33156C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000681"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3556,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3556,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000524470.2:c.*1667+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514307.1:n.*1667+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3732,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3732,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000525976.6:c.3318+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434831.2:n.3318+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3613,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3613,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000527481.3:c.*88+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466340.2:n.*88+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4694,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 4694,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000529370.6:n.4694+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4127,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 4127,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000529739.2:n.4127+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3755,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3755,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000530829.2:c.*2869+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436826.2:n.*2869+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3606,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3606,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000531836.6:c.3318+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436175.2:n.3318+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3726,
          "endIntronDirection": "+",
          "endIntronOffset": 509,
          "referenceAllele": "C",
          "start": 3726,
          "startIntronDirection": "+",
          "startIntronOffset": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000533334.2:c.*1242+509C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432320.2:n.*1242+509C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5054,
          "endIntronDirection": "+",
          "endIntronOffset": 509,
          "referenceAllele": "C",
          "start": 5054,
          "startIntronDirection": "+",
          "startIntronOffset": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000534228.2:n.5054+509C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699354.1:n.1420+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5037,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 5037,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699355.1:c.*2818+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514328.1:n.*2818+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4127,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 4127,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699356.1:n.4127+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910293"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5172,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 5172,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699357.1:n.5172+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3614,
          "endIntronDirection": "+",
          "endIntronOffset": 509,
          "referenceAllele": "C",
          "start": 3614,
          "startIntronDirection": "+",
          "startIntronOffset": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699358.1:c.3200+509C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514329.1:n.3200+509C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 492,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699359.1:c.492+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3690,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3690,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699360.1:c.3276+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514331.1:n.3276+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 352,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699361.1:n.352+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699362.1:c.214+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514332.1:n.214+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699363.1:c.214+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514333.1:n.214+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 318,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699364.1:n.318+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 521,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 521,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699365.1:c.387+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514334.1:n.387+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 1397,
          "referenceAllele": "C",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699366.1:n.111+1397C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "endIntronDirection": "-",
          "endIntronOffset": 1254,
          "referenceAllele": "C",
          "start": 111,
          "startIntronDirection": "-",
          "startIntronOffset": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699367.1:n.112-1255C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 805,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000699368.1:c.805+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514335.1:n.805+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3696,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3696,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000525621.6:c.3318+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431885.1:n.3318+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758915",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525621.6:c.3318+17C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003331.5:c.3318+17C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431885.1:n.3318+17C>A"
          },
          "RefSeq": {
            "hgvs": "NP_003322.3:n.3318+17C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3420,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3420,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000264818.10:c.3318+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264818.6:n.3318+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2909,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 2909,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000524462.5:c.2763+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433203.1:n.2763+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3800,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3800,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000525621.5:c.3318+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431885.1:n.3318+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000525976.5:c.59+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 495,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000527481.2:c.495+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116,
          "endIntronDirection": "+",
          "endIntronOffset": 605,
          "referenceAllele": "C",
          "start": 116,
          "startIntronDirection": "+",
          "startIntronOffset": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000529422.1:n.116+605C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 331,
          "endIntronDirection": "+",
          "endIntronOffset": 509,
          "referenceAllele": "C",
          "start": 331,
          "startIntronDirection": "+",
          "startIntronOffset": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000530220.1:n.331+509C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "endIntronDirection": "-",
          "endIntronOffset": 1448,
          "referenceAllele": "C",
          "start": 337,
          "startIntronDirection": "-",
          "startIntronOffset": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000530560.5:c.338-1449C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465291.1:n.338-1449C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "ENST00000592137.1:n.472+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3696,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3696,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_003331.4:c.3318+17C>A",
        "LRG_121t1:c.3318+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003322.3:n.3318+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3606,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3606,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528245.1:c.3318+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526547.1:n.3318+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3447,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3447,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528246.1:c.3021+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526548.1:n.3021+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3208,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3208,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528247.1:c.3021+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526549.1:n.3021+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3357,
          "endIntronDirection": "+",
          "endIntronOffset": 509,
          "referenceAllele": "C",
          "start": 3357,
          "startIntronDirection": "+",
          "startIntronOffset": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528248.1:c.3200+509C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526550.1:n.3200+509C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2148,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 2148,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528249.1:c.1992+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526551.1:n.1992+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2120,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 2120,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528251.1:c.1575+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526553.1:n.1575+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3432,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3432,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528246.3:c.3021+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526548.1:n.3021+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2154,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 2154,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XM_011528249.2:c.1992+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526551.1:n.1992+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3357,
          "endIntronDirection": "+",
          "endIntronOffset": 509,
          "referenceAllele": "C",
          "start": 3357,
          "startIntronDirection": "+",
          "startIntronOffset": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XR_001753750.1:n.3357+509C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3870,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3870,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XR_001753751.1:n.3870+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4796,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 4796,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "XR_002958353.1:n.4796+17C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3696,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3696,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_003331.5:c.3318+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003322.3:n.3318+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695790",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525621.6:c.3318+17C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003331.5:c.3318+17C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000431885.1:n.3318+17C>A"
          },
          "RefSeq": {
            "hgvs": "NP_003322.3:n.3318+17C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3696,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3696,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385197.1:c.3318+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372126.1:n.3318+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3546,
          "endIntronDirection": "+",
          "endIntronOffset": 541,
          "referenceAllele": "C",
          "start": 3546,
          "startIntronDirection": "+",
          "startIntronOffset": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385198.1:c.3168+541C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372127.1:n.3168+541C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3420,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3420,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385199.1:c.3132+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372128.1:n.3132+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3693,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3693,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385200.1:c.3315+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372129.1:n.3315+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3498,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3498,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385201.1:c.3120+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372130.1:n.3120+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3612,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3612,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385202.1:c.3234+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372131.1:n.3234+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3777,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3777,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385203.1:c.3399+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372132.1:n.3399+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3906,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3906,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385204.1:c.3528+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372133.1:n.3528+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3606,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3606,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385205.1:c.3228+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372134.1:n.3228+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3570,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3570,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385206.1:c.3192+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372135.1:n.3192+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3678,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "C",
          "start": 3678,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012440",
      "geneNCBI_id": 7297,
      "geneSymbol": "TYK2",
      "hgvs": [
        "NM_001385207.1:c.3300+17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372136.1:n.3300+17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723555"
    }
  ],
  "type": "nucleotide"
}