{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2166399768",
  "communityStandardTitle": [
    "NM_000275.3(OCA2):c.1842+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906240",
        "rs": 387906240
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 27955157,
          "referenceAllele": "C",
          "start": 27955156
        }
      ],
      "hgvs": [
        "NC_000015.10:g.27955157C=",
        "CM000677.2:g.27955157C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 28200303,
          "referenceAllele": "C",
          "start": 28200302
        }
      ],
      "hgvs": [
        "NC_000015.9:g.28200303C=",
        "CM000677.1:g.28200303C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 25873898,
          "referenceAllele": "C",
          "start": 25873897
        }
      ],
      "hgvs": [
        "NC_000015.8:g.25873898C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149156,
          "referenceAllele": "G",
          "start": 149155
        }
      ],
      "hgvs": [
        "NG_009846.1:g.149156G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001675"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1955,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.8:c.1842+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:n.1842+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.1842+1G="
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.1842+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:n.1842+1G="
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:n.1842+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1880,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1880,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000353809.9:c.1770+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261276.8:n.1770+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1998,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1998,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.7:c.1842+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:n.1842+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1952,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1952,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.2:c.1842+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:n.1842+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1880,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1880,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.1:c.1770+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:n.1770+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3224,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3224,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521639.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519941.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1980,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1980,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.1:c.1842+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:n.1842+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3222,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3222,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521641.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519943.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3151,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3151,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521642.1:c.1794+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519944.1:n.1794+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088802"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3149,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3149,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521643.1:c.1794+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519945.1:n.1794+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3085,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3085,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521644.1:c.1728+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519946.1:n.1728+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088804"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3223,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3223,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521645.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519947.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3226,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3226,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521646.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519948.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3225,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "G",
          "start": 3225,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521647.1:c.1865+2G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519949.1:n.1865+2G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1982,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1982,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.2:c.1842+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:n.1842+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1933,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1933,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022255.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877744.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2430,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2430,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022256.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877745.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1883,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1883,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022257.1:c.1794+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877746.1:n.1794+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1955,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022258.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877747.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1883,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1883,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022259.1:c.1794+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877748.1:n.1794+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1817,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1817,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022260.1:c.1728+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877749.1:n.1728+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2449,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2449,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022261.1:c.1671+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877750.1:n.1671+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1955,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022262.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877751.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1955,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022263.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877752.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1955,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022264.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877753.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1955,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022265.1:c.1866+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877754.1:n.1866+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1955,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.3:c.1842+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:n.1842+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.1842+1G="
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.1842+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:n.1842+1G="
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:n.1842+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1883,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1883,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.2:c.1770+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:n.1770+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683292"
    }
  ],
  "type": "nucleotide"
}