{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251641",
  "communityStandardTitle": [
    "NM_000275.3(OCA2):c.1182G>A (p.Met394Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16004[alleleid]",
        "alleleId": 16004,
        "preferredName": "NM_000275.3(OCA2):c.1182G>A (p.Met394Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/965",
        "RCV": [
          "RCV000001016"
        ],
        "variationId": 965
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-28234747-C-T",
        "id": "15-28234747-C-T",
        "variant": "15:28234747 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.28234747C>T?assembly=hg19",
        "id": "chr15:g.28234747C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.27989601C>T?assembly=hg38",
        "id": "chr15:g.27989601C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918171",
        "rs": 121918171
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-28234747-C-T?dataset=gnomad_r2_1",
        "id": "15-28234747-C-T",
        "variant": "15:28234747 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-27989601-C-T?dataset=gnomad_r4",
        "id": "15-27989601-C-T",
        "variant": "15:27989601 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 27989601,
          "referenceAllele": "C",
          "start": 27989600
        }
      ],
      "hgvs": [
        "NC_000015.10:g.27989601C>T",
        "CM000677.2:g.27989601C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 28234747,
          "referenceAllele": "C",
          "start": 28234746
        }
      ],
      "hgvs": [
        "NC_000015.9:g.28234747C>T",
        "CM000677.1:g.28234747C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 25908342,
          "referenceAllele": "C",
          "start": 25908341
        }
      ],
      "hgvs": [
        "NC_000015.8:g.25908342C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114712,
          "referenceAllele": "G",
          "start": 114711
        }
      ],
      "hgvs": [
        "NG_009846.1:g.114712G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001675"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.8:c.1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:p.Met394Ile",
        "hgvsWellDefined": "ENSP00000346659.3:p.Met394Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.1182G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.1182G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Met394Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Met394Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "referenceAllele": "G",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000353809.9:c.1110G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261276.8:p.Met370Ile",
        "hgvsWellDefined": "ENSP00000261276.8:p.Met370Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1338,
          "referenceAllele": "G",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "ENST00000354638.7:c.1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346659.3:p.Met394Ile",
        "hgvsWellDefined": "ENSP00000346659.3:p.Met394Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104261",
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.2:c.1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Met394Ile",
        "hgvsWellDefined": "NP_000266.2:p.Met394Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826857038",
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "referenceAllele": "G",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.1:c.1110G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Met370Ile",
        "hgvsWellDefined": "NP_001287913.1:p.Met370Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521639.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519941.1:p.Met402Ile",
        "hgvsWellDefined": "XP_011519941.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1320,
          "referenceAllele": "G",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.1:c.1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:p.Met394Ile",
        "hgvsWellDefined": "XP_011519942.1:p.Met394Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2562,
          "referenceAllele": "G",
          "start": 2561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521641.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519943.1:p.Met402Ile",
        "hgvsWellDefined": "XP_011519943.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2491,
          "referenceAllele": "G",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521642.1:c.1134G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519944.1:p.Met378Ile",
        "hgvsWellDefined": "XP_011519944.1:p.Met378Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088802"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2489,
          "referenceAllele": "G",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521643.1:c.1134G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519945.1:p.Met378Ile",
        "hgvsWellDefined": "XP_011519945.1:p.Met378Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2425,
          "endIntronDirection": "-",
          "endIntronOffset": 2957,
          "referenceAllele": "G",
          "start": 2425,
          "startIntronDirection": "-",
          "startIntronOffset": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521644.1:c.1069-2958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519946.1:n.1069-2958G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2563,
          "referenceAllele": "G",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521645.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519947.1:p.Met402Ile",
        "hgvsWellDefined": "XP_011519947.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2566,
          "referenceAllele": "G",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521646.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519948.1:p.Met402Ile",
        "hgvsWellDefined": "XP_011519948.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2566,
          "referenceAllele": "G",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521647.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519949.1:p.Met402Ile",
        "hgvsWellDefined": "XP_011519949.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2567,
          "referenceAllele": "G",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XR_931843.1:n.2567G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_011521640.2:c.1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519942.1:p.Met394Ile",
        "hgvsWellDefined": "XP_011519942.1:p.Met394Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022255.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877744.1:p.Met402Ile",
        "hgvsWellDefined": "XP_016877744.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1770,
          "referenceAllele": "G",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022256.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877745.1:p.Met402Ile",
        "hgvsWellDefined": "XP_016877745.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "referenceAllele": "G",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022257.1:c.1134G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877746.1:p.Met378Ile",
        "hgvsWellDefined": "XP_016877746.1:p.Met378Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022258.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877747.1:p.Met402Ile",
        "hgvsWellDefined": "XP_016877747.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "referenceAllele": "G",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022259.1:c.1134G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877748.1:p.Met378Ile",
        "hgvsWellDefined": "XP_016877748.1:p.Met378Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "endIntronDirection": "-",
          "endIntronOffset": 2957,
          "referenceAllele": "G",
          "start": 1157,
          "startIntronDirection": "-",
          "startIntronOffset": 2958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022260.1:c.1069-2958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877749.1:n.1069-2958G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022261.1:c.1011G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877750.1:p.Met337Ile",
        "hgvsWellDefined": "XP_016877750.1:p.Met337Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022262.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877751.1:p.Met402Ile",
        "hgvsWellDefined": "XP_016877751.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022263.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877752.1:p.Met402Ile",
        "hgvsWellDefined": "XP_016877752.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022264.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877753.1:p.Met402Ile",
        "hgvsWellDefined": "XP_016877753.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XM_017022265.1:c.1206G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877754.1:p.Met402Ile",
        "hgvsWellDefined": "XP_016877754.1:p.Met402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XR_001751294.1:n.1295G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104261",
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.3:c.1182G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Met394Ile",
        "hgvsWellDefined": "NP_000266.2:p.Met394Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.1182G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.1182G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Met394Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Met394Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826857038",
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "referenceAllele": "G",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.2:c.1110G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Met370Ile",
        "hgvsWellDefined": "NP_001287913.1:p.Met370Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683292"
    }
  ],
  "type": "nucleotide"
}