{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10579349",
  "communityStandardTitle": [
    "NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=234445[alleleid]",
        "alleleId": 234445,
        "preferredName": "NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/230045",
        "RCV": [
          "RCV000213784",
          "RCV000689934",
          "RCV001558463"
        ],
        "variationId": 230045
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.61205562G>A?assembly=hg19",
        "id": "chr11:g.61205562G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.61438090G>A?assembly=hg38",
        "id": "chr11:g.61438090G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876658350",
        "rs": 876658350
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61438090-G-A?dataset=gnomad_r3",
        "id": "11-61438090-G-A",
        "variant": "11:61438090 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61438090-G-A?dataset=gnomad_r4",
        "id": "11-61438090-G-A",
        "variant": "11:61438090 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 61438090,
          "referenceAllele": "G",
          "start": 61438089
        }
      ],
      "hgvs": [
        "NC_000011.10:g.61438090G>A",
        "CM000673.2:g.61438090G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 61205562,
          "referenceAllele": "G",
          "start": 61205561
        }
      ],
      "hgvs": [
        "NC_000011.9:g.61205562G>A",
        "CM000673.1:g.61205562G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 60962138,
          "referenceAllele": "G",
          "start": 60962137
        }
      ],
      "hgvs": [
        "NC_000011.8:g.60962138G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12966,
          "referenceAllele": "G",
          "start": 12965
        }
      ],
      "hgvs": [
        "NG_023393.1:g.12966G>A",
        "LRG_519:g.12966G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003840"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "ENST00000301761.7:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301761.3:p.Trp116Ter",
        "hgvsWellDefined": "ENSP00000301761.3:p.Trp116_Arg166delinsAspIleTyrTyrTrpAlaThrGluAlaLysProAlaProGluIlePheGluAsnGluValMetAlaLeuLeuArgAspPheAlaLysAsnLysAsnLysGluGlnArgLeuArgAlaProAspLeuGluTyrLeuPheGluLysProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301761.7:c.347G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017841.4:c.347G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301761.3:p.Trp116Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060311.1:p.Trp116Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 421,
          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "ENST00000301761.6:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301761.2:p.Trp116Ter",
        "hgvsWellDefined": "ENSP00000301761.2:p.Trp116_Arg166delinsAspIleTyrTyrTrpAlaThrGluAlaLysProAlaProGluIlePheGluAsnGluValMetAlaLeuLeuArgAspPheAlaLysAsnLysAsnLysGluGlnArgLeuArgAlaProAspLeuGluTyrLeuPheGluLysProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "ENST00000359614.9:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352630.5:p.Trp116Ter",
        "hgvsWellDefined": "ENSP00000352630.5:p.Trp116_Ala129delinsAspIleTyrTyrTrpAlaThrGlyTrpSerAlaMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "ENST00000534878.5:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471030.1:p.Trp116Ter",
        "hgvsWellDefined": "ENSP00000471030.1:p.Trp116_Ile141delinsAspIleTyrTyrTrpAlaThrGlyThrGlyTyrAspLysGlnHisAsnValLysIleGlyGlnPheArgLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "ENST00000536250.1:c.*349G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471120.1:n.*349G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "hgvs": [
        "ENST00000536670.5:n.373G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "ENST00000537782.5:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469951.1:p.Trp116Ter",
        "hgvsWellDefined": "ENSP00000469951.1:p.Trp116_Ser133delinsAspIleTyrTyrTrpAlaThrGlySerSerAspSerProAlaSerAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "hgvs": [
        "ENST00000538594.5:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440939.1:p.Trp116Ter",
        "hgvsWellDefined": "ENSP00000440939.1:p.Trp116_Ser133delinsAspIleTyrTyrTrpAlaThrGlyProLeuGlyProCysProThrAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "hgvs": [
        "ENST00000541135.5:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443130.1:p.Trp116Ter",
        "hgvsWellDefined": "ENSP00000443130.1:p.Trp116_Ser163del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78,
          "endIntronDirection": "-",
          "endIntronOffset": 7850,
          "referenceAllele": "G",
          "start": 78,
          "startIntronDirection": "-",
          "startIntronOffset": 7851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "ENST00000542074.1:c.37-7851G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469670.1:n.37-7851G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "ENST00000542794.5:c.*349G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439983.1:n.*349G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "hgvs": [
        "ENST00000543044.2:c.311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440219.1:p.Trp104Ter",
        "hgvsWellDefined": "ENSP00000440219.1:p.Trp104_Arg154delinsAspIleTyrTyrTrpAlaThrGluAlaLysProAlaProGluIlePheGluAsnGluValMetAlaLeuLeuArgAspPheAlaLysAsnLysAsnLysGluGlnArgLeuArgAlaProAspLeuGluTyrLeuPheGluLysProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 263,
          "endIntronDirection": "+",
          "endIntronOffset": 242,
          "referenceAllele": "G",
          "start": 263,
          "startIntronDirection": "+",
          "startIntronOffset": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "ENST00000543265.1:c.260+242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443660.1:n.260+242G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "hgvs": [
        "ENST00000544025.5:n.442G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "hgvs": [
        "ENST00000544801.5:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442581.1:p.Trp116Ter",
        "hgvsWellDefined": "ENSP00000442581.1:p.Trp116_Ser133delinsAspIleTyrTyrTrpAlaThrGlyProLeuGlyProCysProThrAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "hgvs": [
        "ENST00000544880.1:n.351G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364802"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506711",
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "NM_017841.2:c.347G>A",
        "LRG_519t1:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060311.1:p.Trp116Ter",
        "hgvsWellDefined": "NP_060311.1:p.Trp116_Arg166delinsAspIleTyrTyrTrpAlaThrGluAlaLysProAlaProGluIlePheGluAsnGluValMetAlaLeuLeuArgAspPheAlaLysAsnLysAsnLysGluGlnArgLeuArgAlaProAspLeuGluTyrLeuPheGluLysProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035236"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506711",
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026034",
      "geneNCBI_id": 54949,
      "geneSymbol": "SDHAF2",
      "hgvs": [
        "NM_017841.4:c.347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060311.1:p.Trp116Ter",
        "hgvsWellDefined": "NP_060311.1:p.Trp116_Arg166delinsAspIleTyrTyrTrpAlaThrGluAlaLysProAlaProGluIlePheGluAsnGluValMetAlaLeuLeuArgAspPheAlaLysAsnLysAsnLysGluGlnArgLeuArgAlaProAspLeuGluTyrLeuPheGluLysProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697888",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301761.7:c.347G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017841.4:c.347G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301761.3:p.Trp116Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060311.1:p.Trp116Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}