{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13011919",
  "communityStandardTitle": [
    "NC_000009.12:g.69151677C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.71766593C>A?assembly=hg19",
        "id": "chr9:g.71766593C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.69151677C>A?assembly=hg38",
        "id": "chr9:g.69151677C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11145465",
        "rs": 11145465
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-71766593-C-A?dataset=gnomad_r2_1",
        "id": "9-71766593-C-A",
        "variant": "9:71766593 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-69151677-C-A?dataset=gnomad_r3",
        "id": "9-69151677-C-A",
        "variant": "9:69151677 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-69151677-C-A?dataset=gnomad_r4",
        "id": "9-69151677-C-A",
        "variant": "9:69151677 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 69151677,
          "referenceAllele": "C",
          "start": 69151676
        }
      ],
      "hgvs": [
        "NC_000009.12:g.69151677C>A",
        "CM000671.2:g.69151677C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 71766593,
          "referenceAllele": "C",
          "start": 71766592
        }
      ],
      "hgvs": [
        "NC_000009.11:g.71766593C>A",
        "CM000671.1:g.71766593C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 70956413,
          "referenceAllele": "C",
          "start": 70956412
        }
      ],
      "hgvs": [
        "NC_000009.10:g.70956413C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35370,
          "referenceAllele": "C",
          "start": 35369
        }
      ],
      "hgvs": [
        "NG_016342.1:g.35370C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55771,
          "referenceAllele": "C",
          "start": 55770
        }
      ],
      "hgvs": [
        "NG_016342.2:g.55771C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616223"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "ENST00000423935.6:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402941.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 257,
          "referenceAllele": "C",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "ENST00000636438.1:c.143C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489860.1:p.Ser48Tyr",
        "hgvsWellDefined": "ENSP00000489860.1:p.Ser48Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "hgvs": [
        "ENST00000642889.1:c.353C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493780.1:p.Ser118Tyr",
        "hgvsWellDefined": "ENSP00000493780.1:p.Ser118Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "hgvs": [
        "ENST00000643352.1:c.*154C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496488.1:n.*154C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "ENST00000643713.1:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494704.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "hgvs": [
        "ENST00000643765.1:c.668C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "hgvs": [
        "ENST00000645088.1:c.*273C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495447.1:n.*273C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "hgvs": [
        "ENST00000646862.1:c.572C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494599.1:p.Ser191Tyr",
        "hgvsWellDefined": "ENSP00000494599.1:p.Ser191Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769105"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "referenceAllele": "C",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "ENST00000647986.1:c.-222C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496877.1:n.-222C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "ENST00000648087.1:n.283C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32,
          "referenceAllele": "C",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "ENST00000377259.5:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366469.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28,
          "referenceAllele": "C",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "ENST00000423935.5:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402941.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "ENST00000453658.6:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392178.2:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "ENST00000606364.5:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475926.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "NM_001170414.2:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001163885.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "referenceAllele": "C",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "XM_011519204.1:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517506.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "XM_011519205.1:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517507.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "XM_011519206.1:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517508.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "XM_011519207.1:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517509.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "XM_011519208.1:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517510.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "C",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "XM_011519206.2:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517508.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "XM_011519207.2:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517509.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "C",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "XM_011519208.2:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517510.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 254,
          "referenceAllele": "C",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "NM_001369870.1:c.-104C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356799.1:n.-104C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 126,
          "referenceAllele": "C",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011828",
      "geneNCBI_id": 9414,
      "geneSymbol": "TJP2",
      "hgvs": [
        "NM_001369871.1:c.-222C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356800.1:n.-222C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692020"
    }
  ],
  "type": "nucleotide"
}