{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA174241544",
  "communityStandardTitle": [
    "NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=513195[alleleid]",
        "alleleId": 513195,
        "preferredName": "NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/522581",
        "RCV": [
          "RCV000625719",
          "RCV001209557",
          "RCV001815352"
        ],
        "variationId": 522581
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.27320834G>A?assembly=hg19",
        "id": "chr8:g.27320834G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.27463317G>A?assembly=hg38",
        "id": "chr8:g.27463317G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1018084204",
        "rs": 1018084204
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-27320834-G-A?dataset=gnomad_r2_1",
        "id": "8-27320834-G-A",
        "variant": "8:27320834 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-27463317-G-A?dataset=gnomad_r4",
        "id": "8-27463317-G-A",
        "variant": "8:27463317 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 27463317,
          "referenceAllele": "G",
          "start": 27463316
        }
      ],
      "hgvs": [
        "NC_000008.11:g.27463317G>A",
        "CM000670.2:g.27463317G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 27320834,
          "referenceAllele": "G",
          "start": 27320833
        }
      ],
      "hgvs": [
        "NC_000008.10:g.27320834G>A",
        "CM000670.1:g.27320834G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 27376751,
          "referenceAllele": "G",
          "start": 27376750
        }
      ],
      "hgvs": [
        "NC_000008.9:g.27376751G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20980,
          "referenceAllele": "C",
          "start": 20979
        }
      ],
      "hgvs": [
        "NG_015827.1:g.20980C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002859"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "ENST00000407991.3:c.1126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385026.1:p.Arg376Trp",
        "hgvsWellDefined": "ENSP00000385026.1:p.Arg376Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000407991.3:c.1126C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000742.4:c.1126C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385026.1:p.Arg376Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000733.2:p.Arg376Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "C",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "ENST00000240132.7:c.1081C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000240132.2:p.Arg361Trp",
        "hgvsWellDefined": "ENSP00000240132.2:p.Arg361Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1735,
          "referenceAllele": "C",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "ENST00000407991.2:c.1126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385026.1:p.Arg376Trp",
        "hgvsWellDefined": "ENSP00000385026.1:p.Arg376Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "endIntronDirection": "-",
          "endIntronOffset": 1562,
          "referenceAllele": "C",
          "start": 289,
          "startIntronDirection": "-",
          "startIntronOffset": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "ENST00000520600.1:n.290-1563C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1502,
          "referenceAllele": "C",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "ENST00000520933.7:c.1060C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429616.2:p.Arg354Trp",
        "hgvsWellDefined": "ENSP00000429616.2:p.Arg354Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "ENST00000523695.5:c.*528C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430612.1:n.*528C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658800831",
      "coordinates": [
        {
          "allele": "T",
          "end": 1735,
          "referenceAllele": "C",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_000742.3:c.1126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000733.2:p.Arg376Trp",
        "hgvsWellDefined": "NP_000733.2:p.Arg376Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006776"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826647111",
      "coordinates": [
        {
          "allele": "T",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_001282455.1:c.1081C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269384.1:p.Arg361Trp",
        "hgvsWellDefined": "NP_001269384.1:p.Arg361Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "XM_005273397.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273454.1:p.Arg217Trp",
        "hgvsWellDefined": "XP_005273454.1:p.Arg217Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "referenceAllele": "C",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "XM_006716282.1:c.1126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716345.1:p.Arg376Trp",
        "hgvsWellDefined": "XP_006716345.1:p.Arg376Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "XM_011544388.1:c.1126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542690.1:p.Arg376Trp",
        "hgvsWellDefined": "XP_011542690.1:p.Arg376Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1599,
          "referenceAllele": "C",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "XM_011544389.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542691.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_011542691.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402941",
      "coordinates": [
        {
          "allele": "T",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_001347705.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334634.1:p.Arg217Trp",
        "hgvsWellDefined": "NP_001334634.1:p.Arg217Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827403423",
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_001347706.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334635.1:p.Arg217Trp",
        "hgvsWellDefined": "NP_001334635.1:p.Arg217Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827403751",
      "coordinates": [
        {
          "allele": "T",
          "end": 1614,
          "referenceAllele": "C",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_001347707.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334636.1:p.Arg178Trp",
        "hgvsWellDefined": "NP_001334636.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517808"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827404057",
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_001347708.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334637.1:p.Arg178Trp",
        "hgvsWellDefined": "NP_001334637.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "XM_011544389.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542691.1:p.Arg178Trp",
        "hgvsWellDefined": "XP_011542691.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658800831",
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_000742.4:c.1126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000733.2:p.Arg376Trp",
        "hgvsWellDefined": "NP_000733.2:p.Arg376Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662558",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000407991.3:c.1126C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000742.4:c.1126C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385026.1:p.Arg376Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000733.2:p.Arg376Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826647111",
      "coordinates": [
        {
          "allele": "T",
          "end": 1655,
          "referenceAllele": "C",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_001282455.2:c.1081C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269384.1:p.Arg361Trp",
        "hgvsWellDefined": "NP_001269384.1:p.Arg361Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681781"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402941",
      "coordinates": [
        {
          "allele": "T",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_001347705.2:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334634.1:p.Arg217Trp",
        "hgvsWellDefined": "NP_001334634.1:p.Arg217Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827403423",
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_001347706.2:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334635.1:p.Arg217Trp",
        "hgvsWellDefined": "NP_001334635.1:p.Arg217Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827403751",
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_001347707.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334636.1:p.Arg178Trp",
        "hgvsWellDefined": "NP_001334636.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827404057",
      "coordinates": [
        {
          "allele": "T",
          "end": 1567,
          "referenceAllele": "C",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001956",
      "geneNCBI_id": 1135,
      "geneSymbol": "CHRNA2",
      "hgvs": [
        "NM_001347708.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334637.1:p.Arg178Trp",
        "hgvsWellDefined": "NP_001334637.1:p.Arg178Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687481"
    }
  ],
  "type": "nucleotide"
}