{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2336258759",
  "communityStandardTitle": [
    "NM_000767.5(CYP2B6):c.785A= (p.Lys262=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2279343",
        "rs": 2279343
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41009358,
          "referenceAllele": "A",
          "start": 41009357
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41009358A=",
        "CM000681.2:g.41009358A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41515263,
          "referenceAllele": "A",
          "start": 41515262
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41515263A=",
        "CM000681.1:g.41515263A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 46207103,
          "referenceAllele": "A",
          "start": 46207102
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46207103A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23060,
          "referenceAllele": "A",
          "start": 23059
        }
      ],
      "hgvs": [
        "NG_007929.1:g.23060A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000696"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "ENST00000324071.10:c.785A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324648.2:p.Lys262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324071.10:c.785A="
          },
          "RefSeq": {
            "hgvs": "NM_000767.5:c.785A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324648.2:p.Lys262="
          },
          "RefSeq": {
            "hgvs": "NP_000758.1:p.Lys262="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "ENST00000598834.2:c.809A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "A",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "ENST00000324071.8:c.785A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324648.2:p.Lys262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "endIntronDirection": "-",
          "endIntronOffset": 2939,
          "referenceAllele": "A",
          "start": 368,
          "startIntronDirection": "-",
          "startIntronOffset": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "ENST00000593831.1:c.257-2940A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470582.1:n.257-2940A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394374"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085848040",
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "A",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "NM_000767.4:c.785A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000758.1:p.Lys262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "A",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_005258569.3:c.785A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258626.1:p.Lys262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 860,
          "referenceAllele": "A",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_006723050.2:c.785A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723113.1:p.Lys262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_011526546.1:c.785A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524848.1:p.Lys262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 860,
          "referenceAllele": "A",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_011526547.1:c.785A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524849.1:p.Lys262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 2939,
          "referenceAllele": "A",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_011526548.1:c.485-2940A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524850.1:n.485-2940A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_011526549.1:c.194A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524851.1:p.Lys65="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "endIntronDirection": "-",
          "endIntronOffset": 2939,
          "referenceAllele": "A",
          "start": 403,
          "startIntronDirection": "-",
          "startIntronOffset": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_011526550.1:c.365-2940A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524852.1:n.365-2940A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085848040",
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "NM_000767.5:c.785A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000758.1:p.Lys262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324071.10:c.785A="
          },
          "RefSeq": {
            "hgvs": "NM_000767.5:c.785A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324648.2:p.Lys262="
          },
          "RefSeq": {
            "hgvs": "NP_000758.1:p.Lys262="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}