{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA488959020",
  "communityStandardTitle": [
    "NM_000275.3(OCA2):c.2328T>G (p.Ala776=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.28096538A>C?assembly=hg19",
        "id": "chr15:g.28096538A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800419",
        "rs": 1800419
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 27851392,
          "referenceAllele": "A",
          "start": 27851391
        }
      ],
      "hgvs": [
        "NC_000015.10:g.27851392A>C",
        "CM000677.2:g.27851392A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 28096538,
          "referenceAllele": "A",
          "start": 28096537
        }
      ],
      "hgvs": [
        "NC_000015.9:g.28096538A>C",
        "CM000677.1:g.28096538A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 25770133,
          "referenceAllele": "A",
          "start": 25770132
        }
      ],
      "hgvs": [
        "NC_000015.8:g.25770133A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 252921,
          "referenceAllele": "T",
          "start": 252920
        }
      ],
      "hgvs": [
        "NG_009846.1:g.252921T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001675"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2441,
          "referenceAllele": "T",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.8:c.2328T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:p.Ala776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.2328T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.2328T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Ala776="
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Ala776="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2366,
          "referenceAllele": "T",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000353809.9:c.2256T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261276.8:p.Ala752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2484,
          "referenceAllele": "T",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.7:c.2328T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:p.Ala776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137466",
      "coordinates": [
        {
          "allele": "G",
          "end": 2438,
          "referenceAllele": "T",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.2:c.2328T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Ala776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826857389",
      "coordinates": [
        {
          "allele": "G",
          "end": 2366,
          "referenceAllele": "T",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.1:c.2256T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Ala752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3752,
          "referenceAllele": "T",
          "start": 3751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521639.1:c.2394T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519941.1:p.Ala798="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2508,
          "referenceAllele": "T",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.1:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:p.Ala790="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3708,
          "referenceAllele": "T",
          "start": 3707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521641.1:c.2352T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519943.1:p.Ala784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3679,
          "referenceAllele": "T",
          "start": 3678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521642.1:c.2322T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519944.1:p.Ala774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088802"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3635,
          "referenceAllele": "T",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521643.1:c.2280T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519945.1:p.Ala760="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088803"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3613,
          "referenceAllele": "T",
          "start": 3612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521644.1:c.2256T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519946.1:p.Ala752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088804"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3544,
          "referenceAllele": "T",
          "start": 3543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521645.1:c.2187T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519947.1:p.Ala729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "T",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.2:c.2370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:p.Ala790="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2461,
          "referenceAllele": "T",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022255.1:c.2394T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877744.1:p.Ala798="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2916,
          "referenceAllele": "T",
          "start": 2915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022256.1:c.2352T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877745.1:p.Ala784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2411,
          "referenceAllele": "T",
          "start": 2410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022257.1:c.2322T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877746.1:p.Ala774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2441,
          "referenceAllele": "T",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022258.1:c.2352T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877747.1:p.Ala784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2369,
          "referenceAllele": "T",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022259.1:c.2280T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877748.1:p.Ala760="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2345,
          "referenceAllele": "T",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022260.1:c.2256T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877749.1:p.Ala752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2977,
          "referenceAllele": "T",
          "start": 2976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022261.1:c.2199T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877750.1:p.Ala733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2357,
          "endIntronDirection": "+",
          "endIntronOffset": 19762,
          "referenceAllele": "T",
          "start": 2357,
          "startIntronDirection": "+",
          "startIntronOffset": 19761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022262.1:c.2268+19762T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877751.1:n.2268+19762T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "referenceAllele": "T",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022263.1:c.2187T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877752.1:p.Ala729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2276,
          "referenceAllele": "T",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022264.1:c.2187T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877753.1:p.Ala729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137466",
      "coordinates": [
        {
          "allele": "G",
          "end": 2441,
          "referenceAllele": "T",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.3:c.2328T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Ala776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.2328T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.2328T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Ala776="
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Ala776="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826857389",
      "coordinates": [
        {
          "allele": "G",
          "end": 2369,
          "referenceAllele": "T",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.2:c.2256T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Ala752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683292"
    }
  ],
  "type": "nucleotide"
}