{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2168508",
  "communityStandardTitle": [
    "NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4964387"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363715[alleleid]",
        "alleleId": 363715,
        "preferredName": "NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376837",
        "RCV": [
          "RCV000420882",
          "RCV001138818",
          "RCV001138817",
          "RCV001354901",
          "RCV004544730"
        ],
        "variationId": 376837
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-233404771-G-A",
        "id": "2-233404771-G-A",
        "variant": "2:233404771 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233404771G>A?assembly=hg19",
        "id": "chr2:g.233404771G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.232540061G>A?assembly=hg38",
        "id": "chr2:g.232540061G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148468628",
        "rs": 148468628
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-233404771-G-A?dataset=gnomad_r2_1",
        "id": "2-233404771-G-A",
        "variant": "2:233404771 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232540061-G-A?dataset=gnomad_r3",
        "id": "2-232540061-G-A",
        "variant": "2:232540061 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-232540061-G-A?dataset=gnomad_r4",
        "id": "2-232540061-G-A",
        "variant": "2:232540061 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 232540061,
          "referenceAllele": "G",
          "start": 232540060
        }
      ],
      "hgvs": [
        "NC_000002.12:g.232540061G>A",
        "CM000664.2:g.232540061G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 233404771,
          "referenceAllele": "G",
          "start": 233404770
        }
      ],
      "hgvs": [
        "NC_000002.11:g.233404771G>A",
        "CM000664.1:g.233404771G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 233113015,
          "referenceAllele": "G",
          "start": 233113014
        }
      ],
      "hgvs": [
        "NC_000002.10:g.233113015G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5335,
          "referenceAllele": "G",
          "start": 5334
        }
      ],
      "hgvs": [
        "NG_012954.1:g.5335G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5370,
          "referenceAllele": "G",
          "start": 5369
        }
      ],
      "hgvs": [
        "NG_012954.2:g.5370G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616197"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000651502.1:c.125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498757.1:p.Arg42Gln",
        "hgvsWellDefined": "ENSP00000498757.1:p.Arg42Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651502.1:c.125G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005199.5:c.125G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498757.1:p.Arg42Gln"
          },
          "RefSeq": {
            "hgvs": "NP_005190.4:p.Arg42Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000389492.3:c.125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374143.3:p.Arg42Gln",
        "hgvsWellDefined": "ENSP00000374143.3:p.Arg42Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000389494.7:c.125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374145.3:p.Arg42Gln",
        "hgvsWellDefined": "ENSP00000374145.3:p.Arg42Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000485094.1:n.146G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645440814",
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "NM_005199.4:c.125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005190.4:p.Arg42Gln",
        "hgvsWellDefined": "NP_005190.4:p.Arg42Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645440814",
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "NM_005199.5:c.125G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005190.4:p.Arg42Gln",
        "hgvsWellDefined": "NP_005190.4:p.Arg42Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651502.1:c.125G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005199.5:c.125G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498757.1:p.Arg42Gln"
          },
          "RefSeq": {
            "hgvs": "NP_005190.4:p.Arg42Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}