{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2166365096",
  "communityStandardTitle": [
    "NM_000275.3(OCA2):c.1969G= (p.Gly657=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879253729",
        "rs": 879253729
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 27926237,
          "referenceAllele": "C",
          "start": 27926236
        }
      ],
      "hgvs": [
        "NC_000015.10:g.27926237C=",
        "CM000677.2:g.27926237C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 28171383,
          "referenceAllele": "C",
          "start": 28171382
        }
      ],
      "hgvs": [
        "NC_000015.9:g.28171383C=",
        "CM000677.1:g.28171383C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 25844978,
          "referenceAllele": "C",
          "start": 25844977
        }
      ],
      "hgvs": [
        "NC_000015.8:g.25844978C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178076,
          "referenceAllele": "G",
          "start": 178075
        }
      ],
      "hgvs": [
        "NG_009846.1:g.178076G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001675"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2082,
          "referenceAllele": "G",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.8:c.1969G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:p.Gly657="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.1969G="
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.1969G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Gly657="
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Gly657="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2007,
          "referenceAllele": "G",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000353809.9:c.1897G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261276.8:p.Gly633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.7:c.1969G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:p.Gly657="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082218523",
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.2:c.1969G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Gly657="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2007,
          "referenceAllele": "G",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.1:c.1897G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Gly633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3351,
          "referenceAllele": "G",
          "start": 3350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521639.1:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519941.1:p.Gly665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.1:c.1969G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:p.Gly657="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3349,
          "referenceAllele": "G",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521641.1:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519943.1:p.Gly665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3278,
          "referenceAllele": "G",
          "start": 3277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521642.1:c.1921G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519944.1:p.Gly641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088802"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3276,
          "referenceAllele": "G",
          "start": 3275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521643.1:c.1921G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519945.1:p.Gly641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3212,
          "referenceAllele": "G",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521644.1:c.1855G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519946.1:p.Gly619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088804"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3350,
          "referenceAllele": "G",
          "start": 3349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521645.1:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519947.1:p.Gly665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2109,
          "referenceAllele": "G",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.2:c.1969G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:p.Gly657="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022255.1:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877744.1:p.Gly665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2557,
          "referenceAllele": "G",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022256.1:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877745.1:p.Gly665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "referenceAllele": "G",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022257.1:c.1921G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877746.1:p.Gly641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2082,
          "referenceAllele": "G",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022258.1:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877747.1:p.Gly665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "referenceAllele": "G",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022259.1:c.1921G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877748.1:p.Gly641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1944,
          "referenceAllele": "G",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022260.1:c.1855G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877749.1:p.Gly619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2576,
          "referenceAllele": "G",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022261.1:c.1798G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877750.1:p.Gly600="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2082,
          "referenceAllele": "G",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022262.1:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877751.1:p.Gly665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2082,
          "referenceAllele": "G",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022263.1:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877752.1:p.Gly665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2082,
          "referenceAllele": "G",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022264.1:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877753.1:p.Gly665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082218523",
      "coordinates": [
        {
          "allele": "G",
          "end": 2082,
          "referenceAllele": "G",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.3:c.1969G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Gly657="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.1969G="
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.1969G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Gly657="
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Gly657="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "referenceAllele": "G",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.2:c.1897G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Gly633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683292"
    }
  ],
  "type": "nucleotide"
}