{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389630282",
  "communityStandardTitle": [
    "NM_018139.3(DNAAF2):c.804C>G (p.Tyr268Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=463773[alleleid]",
        "alleleId": 463773,
        "preferredName": "NM_018139.3(DNAAF2):c.804C>G (p.Tyr268Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/454914",
        "RCV": [
          "RCV000559884"
        ],
        "variationId": 454914
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.50101064G>C?assembly=hg19",
        "id": "chr14:g.50101064G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.49634346G>C?assembly=hg38",
        "id": "chr14:g.49634346G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555328022",
        "rs": 1555328022
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 49634346,
          "referenceAllele": "G",
          "start": 49634345
        }
      ],
      "hgvs": [
        "NC_000014.9:g.49634346G>C",
        "CM000676.2:g.49634346G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 50101064,
          "referenceAllele": "G",
          "start": 50101063
        }
      ],
      "hgvs": [
        "NC_000014.8:g.50101064G>C",
        "CM000676.1:g.50101064G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 49170814,
          "referenceAllele": "G",
          "start": 49170813
        }
      ],
      "hgvs": [
        "NC_000014.7:g.49170814G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5885,
          "referenceAllele": "C",
          "start": 5884
        }
      ],
      "hgvs": [
        "NG_013070.1:g.5885C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002699"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "C",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "ENST00000298292.13:c.804C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298292.8:p.Tyr268Ter",
        "hgvsWellDefined": "ENSP00000298292.8:p.Tyr268_Asp837delinsArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluGluArgLeuPheValAsnGluGluAsnValAsnGluPheLeuGluGluValLeuSerSerProPheLysGlnSerMetSerLeuThrProProLeuIleGluValLeuGlnValThrAspAsnLysIleGlnIleAsnAlaLysLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298292.13:c.804C>G"
          },
          "RefSeq": {
            "hgvs": "NM_018139.3:c.804C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298292.8:p.Tyr268Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060609.2:p.Tyr268Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "ENST00000298292.12:c.804C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298292.8:p.Tyr268Ter",
        "hgvsWellDefined": "ENSP00000298292.8:p.Tyr268_Asp837delinsArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluGluArgLeuPheValAsnGluGluAsnValAsnGluPheLeuGluGluValLeuSerSerProPheLysGlnSerMetSerLeuThrProProLeuIleGluValLeuGlnValThrAspAsnLysIleGlnIleAsnAlaLysLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "ENST00000406043.3:c.804C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384862.3:p.Tyr268Ter",
        "hgvsWellDefined": "ENSP00000384862.3:p.Tyr268_Asp789delinsArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825515873",
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_001083908.1:c.804C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077377.1:p.Tyr268Ter",
        "hgvsWellDefined": "NP_001077377.1:p.Tyr268_Asp789delinsArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678674",
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_018139.2:c.804C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060609.2:p.Tyr268Ter",
        "hgvsWellDefined": "NP_060609.2:p.Tyr268_Asp837delinsArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluGluArgLeuPheValAsnGluGluAsnValAsnGluPheLeuGluGluValLeuSerSerProPheLysGlnSerMetSerLeuThrProProLeuIleGluValLeuGlnValThrAspAsnLysIleGlnIleAsnAlaLysLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825515873",
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "C",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_001083908.2:c.804C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077377.1:p.Tyr268Ter",
        "hgvsWellDefined": "NP_001077377.1:p.Tyr268_Asp789delinsArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711873"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678674",
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "C",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_018139.3:c.804C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060609.2:p.Tyr268Ter",
        "hgvsWellDefined": "NP_060609.2:p.Tyr268_Asp837delinsArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluGluArgLeuPheValAsnGluGluAsnValAsnGluPheLeuGluGluValLeuSerSerProPheLysGlnSerMetSerLeuThrProProLeuIleGluValLeuGlnValThrAspAsnLysIleGlnIleAsnAlaLysLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298292.13:c.804C>G"
          },
          "RefSeq": {
            "hgvs": "NM_018139.3:c.804C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298292.8:p.Tyr268Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060609.2:p.Tyr268Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}