{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA405978623",
  "communityStandardTitle": [
    "NM_000767.5(CYP2B6):c.639C>G (p.Phe213Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41512964C>G?assembly=hg19",
        "id": "chr19:g.41512964C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41007059C>G?assembly=hg38",
        "id": "chr19:g.41007059C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41007059,
          "referenceAllele": "C",
          "start": 41007058
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41007059C>G",
        "CM000681.2:g.41007059C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41512964,
          "referenceAllele": "C",
          "start": 41512963
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41512964C>G",
        "CM000681.1:g.41512964C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 46204804,
          "referenceAllele": "C",
          "start": 46204803
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46204804C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20761,
          "referenceAllele": "C",
          "start": 20760
        }
      ],
      "hgvs": [
        "NG_007929.1:g.20761C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000696"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "ENST00000324071.10:c.639C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324648.2:p.Phe213Leu",
        "hgvsWellDefined": "ENSP00000324648.2:p.Phe213Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324071.10:c.639C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000767.5:c.639C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324648.2:p.Phe213Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000758.1:p.Phe213Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "ENST00000598834.2:c.541C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "ENST00000324071.8:c.639C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324648.2:p.Phe213Leu",
        "hgvsWellDefined": "ENSP00000324648.2:p.Phe213Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258295"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "endIntronDirection": "+",
          "endIntronOffset": 2613,
          "referenceAllele": "C",
          "start": 368,
          "startIntronDirection": "+",
          "startIntronOffset": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "ENST00000593831.1:c.256+2613C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470582.1:n.256+2613C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394374"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "ENST00000594187.1:n.223C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "ENST00000598834.1:n.541C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA230633",
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "NM_000767.4:c.639C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000758.1:p.Phe213Leu",
        "hgvsWellDefined": "NP_000758.1:p.Phe213Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006798"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 713,
          "referenceAllele": "C",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_005258569.3:c.639C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258626.1:p.Phe213Leu",
        "hgvsWellDefined": "XP_005258626.1:p.Phe213Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_006723050.2:c.639C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723113.1:p.Phe213Leu",
        "hgvsWellDefined": "XP_006723113.1:p.Phe213Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_011526546.1:c.639C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524848.1:p.Phe213Leu",
        "hgvsWellDefined": "XP_011524848.1:p.Phe213Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_011526547.1:c.639C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524849.1:p.Phe213Leu",
        "hgvsWellDefined": "XP_011524849.1:p.Phe213Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "endIntronDirection": "+",
          "endIntronOffset": 2613,
          "referenceAllele": "C",
          "start": 557,
          "startIntronDirection": "+",
          "startIntronOffset": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_011526548.1:c.484+2613C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524850.1:n.484+2613C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212,
          "referenceAllele": "C",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_011526549.1:c.48C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524851.1:p.Phe16Leu",
        "hgvsWellDefined": "XP_011524851.1:p.Phe16Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 403,
          "endIntronDirection": "+",
          "endIntronOffset": 2613,
          "referenceAllele": "C",
          "start": 403,
          "startIntronDirection": "+",
          "startIntronOffset": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "XM_011526550.1:c.364+2613C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524852.1:n.364+2613C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA230633",
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002615",
      "geneNCBI_id": 1555,
      "geneSymbol": "CYP2B6",
      "hgvs": [
        "NM_000767.5:c.639C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000758.1:p.Phe213Leu",
        "hgvsWellDefined": "NP_000758.1:p.Phe213Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324071.10:c.639C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000767.5:c.639C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324648.2:p.Phe213Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000758.1:p.Phe213Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}