{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251635",
  "communityStandardTitle": [
    "NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15995[alleleid]",
        "alleleId": 15995,
        "preferredName": "NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/956",
        "RCV": [
          "RCV000001007",
          "RCV000481371",
          "RCV000755092",
          "RCV000762938",
          "RCV003460401"
        ],
        "variationId": 956
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-28116316-G-A",
        "id": "15-28116316-G-A",
        "variant": "15:28116316 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.28116316G>A?assembly=hg19",
        "id": "chr15:g.28116316G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.27871170G>A?assembly=hg38",
        "id": "chr15:g.27871170G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918167",
        "rs": 121918167
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-28116316-G-A?dataset=gnomad_r2_1",
        "id": "15-28116316-G-A",
        "variant": "15:28116316 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-27871170-G-A?dataset=gnomad_r3",
        "id": "15-27871170-G-A",
        "variant": "15:27871170 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-27871170-G-A?dataset=gnomad_r4",
        "id": "15-27871170-G-A",
        "variant": "15:27871170 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 27871170,
          "referenceAllele": "G",
          "start": 27871169
        }
      ],
      "hgvs": [
        "NC_000015.10:g.27871170G>A",
        "CM000677.2:g.27871170G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 28116316,
          "referenceAllele": "G",
          "start": 28116315
        }
      ],
      "hgvs": [
        "NC_000015.9:g.28116316G>A",
        "CM000677.1:g.28116316G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 25789911,
          "referenceAllele": "G",
          "start": 25789910
        }
      ],
      "hgvs": [
        "NC_000015.8:g.25789911G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 233143,
          "referenceAllele": "C",
          "start": 233142
        }
      ],
      "hgvs": [
        "NG_009846.1:g.233143C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001675"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.8:c.2228C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:p.Pro743Leu",
        "hgvsWellDefined": "ENSP00000346659.3:p.Pro743Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.2228C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.2228C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Pro743Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Pro743Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000353809.9:c.2156C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261276.8:p.Pro719Leu",
        "hgvsWellDefined": "ENSP00000261276.8:p.Pro719Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2384,
          "referenceAllele": "C",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.7:c.2228C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:p.Pro743Leu",
        "hgvsWellDefined": "ENSP00000346659.3:p.Pro743Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104339",
      "coordinates": [
        {
          "allele": "T",
          "end": 2338,
          "referenceAllele": "C",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.2:c.2228C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Pro743Leu",
        "hgvsWellDefined": "NP_000266.2:p.Pro743Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826857348",
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.1:c.2156C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Pro719Leu",
        "hgvsWellDefined": "NP_001287913.1:p.Pro719Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3610,
          "referenceAllele": "C",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521639.1:c.2252C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519941.1:p.Pro751Leu",
        "hgvsWellDefined": "XP_011519941.1:p.Pro751Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2366,
          "referenceAllele": "C",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.1:c.2228C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:p.Pro743Leu",
        "hgvsWellDefined": "XP_011519942.1:p.Pro743Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3608,
          "referenceAllele": "C",
          "start": 3607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521641.1:c.2252C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519943.1:p.Pro751Leu",
        "hgvsWellDefined": "XP_011519943.1:p.Pro751Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3537,
          "referenceAllele": "C",
          "start": 3536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521642.1:c.2180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519944.1:p.Pro727Leu",
        "hgvsWellDefined": "XP_011519944.1:p.Pro727Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3535,
          "referenceAllele": "C",
          "start": 3534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521643.1:c.2180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519945.1:p.Pro727Leu",
        "hgvsWellDefined": "XP_011519945.1:p.Pro727Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3471,
          "referenceAllele": "C",
          "start": 3470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521644.1:c.2114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519946.1:p.Pro705Leu",
        "hgvsWellDefined": "XP_011519946.1:p.Pro705Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3460,
          "endIntronDirection": "-",
          "endIntronOffset": 19694,
          "referenceAllele": "C",
          "start": 3460,
          "startIntronDirection": "-",
          "startIntronOffset": 19695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521645.1:c.2104-19695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519947.1:n.2104-19695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2368,
          "referenceAllele": "C",
          "start": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.2:c.2228C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:p.Pro743Leu",
        "hgvsWellDefined": "XP_011519942.1:p.Pro743Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022255.1:c.2252C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877744.1:p.Pro751Leu",
        "hgvsWellDefined": "XP_016877744.1:p.Pro751Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2816,
          "referenceAllele": "C",
          "start": 2815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022256.1:c.2252C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877745.1:p.Pro751Leu",
        "hgvsWellDefined": "XP_016877745.1:p.Pro751Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022257.1:c.2180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877746.1:p.Pro727Leu",
        "hgvsWellDefined": "XP_016877746.1:p.Pro727Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022258.1:c.2252C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877747.1:p.Pro751Leu",
        "hgvsWellDefined": "XP_016877747.1:p.Pro751Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022259.1:c.2180C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877748.1:p.Pro727Leu",
        "hgvsWellDefined": "XP_016877748.1:p.Pro727Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2203,
          "referenceAllele": "C",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022260.1:c.2114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877749.1:p.Pro705Leu",
        "hgvsWellDefined": "XP_016877749.1:p.Pro705Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2835,
          "referenceAllele": "C",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022261.1:c.2057C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877750.1:p.Pro686Leu",
        "hgvsWellDefined": "XP_016877750.1:p.Pro686Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022262.1:c.2252C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877751.1:p.Pro751Leu",
        "hgvsWellDefined": "XP_016877751.1:p.Pro751Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "endIntronDirection": "-",
          "endIntronOffset": 19694,
          "referenceAllele": "C",
          "start": 2192,
          "startIntronDirection": "-",
          "startIntronOffset": 19695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022263.1:c.2104-19695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877752.1:n.2104-19695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "endIntronDirection": "-",
          "endIntronOffset": 19694,
          "referenceAllele": "C",
          "start": 2192,
          "startIntronDirection": "-",
          "startIntronOffset": 19695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022264.1:c.2104-19695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877753.1:n.2104-19695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104339",
      "coordinates": [
        {
          "allele": "T",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.3:c.2228C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Pro743Leu",
        "hgvsWellDefined": "NP_000266.2:p.Pro743Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.2228C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.2228C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Pro743Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Pro743Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826857348",
      "coordinates": [
        {
          "allele": "T",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.2:c.2156C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Pro719Leu",
        "hgvsWellDefined": "NP_001287913.1:p.Pro719Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683292"
    }
  ],
  "type": "nucleotide"
}