{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251489",
  "communityStandardTitle": [
    "NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15568[alleleid]",
        "alleleId": 15568,
        "preferredName": "NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/529",
        "RCV": [
          "RCV000000559",
          "RCV000190866"
        ],
        "variationId": 529
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.50101845G>T?assembly=hg19",
        "id": "chr14:g.50101845G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.49635127G>T?assembly=hg38",
        "id": "chr14:g.49635127G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853191",
        "rs": 137853191
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-49635127-G-T?dataset=gnomad_r4",
        "id": "14-49635127-G-T",
        "variant": "14:49635127 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 49635127,
          "referenceAllele": "G",
          "start": 49635126
        }
      ],
      "hgvs": [
        "NC_000014.9:g.49635127G>T",
        "CM000676.2:g.49635127G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 50101845,
          "referenceAllele": "G",
          "start": 50101844
        }
      ],
      "hgvs": [
        "NC_000014.8:g.50101845G>T",
        "CM000676.1:g.50101845G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 49171595,
          "referenceAllele": "G",
          "start": 49171594
        }
      ],
      "hgvs": [
        "NC_000014.7:g.49171595G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5104,
          "referenceAllele": "C",
          "start": 5103
        }
      ],
      "hgvs": [
        "NG_013070.1:g.5104C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002699"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "ENST00000298292.13:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298292.8:p.Ser8Ter",
        "hgvsWellDefined": "ENSP00000298292.8:p.Ser9_Asp837delinsLeuGluAspLeuAspLeuSerGlyGluGluValGlnArgLeuThrSerAlaPheGlnAspProGluPheArgArgMetPheSerGlnTyrAlaGluGluLeuThrAspProGluAsnArgArgArgTyrGluAlaGluIleThrAlaLeuGluArgGluArgGlyValGluValArgPheValHisProGluProGlyHisValLeuArgThrSerLeuAspGlyAlaArgArgCysPheValAsnValCysSerAsnAlaLeuValGlyAlaProSerSerArgProGlySerGlyGlyAspArgGlyAlaAlaProGlySerHisTrpSerLeuProTyrSerLeuAlaProGlyArgGluTyrAlaGlyArgSerSerSerArgTyrMetValTyrAspValValPheHisProAspAlaLeuAlaLeuAlaArgArgHisGluGlyPheArgGlnMetLeuAspAlaThrAlaLeuGluAlaValGluLysGlnPheGlyValLysLeuAspArgArgAsnAlaLysThrLeuLysAlaLysTyrLysGlyThrProGluAlaAlaValLeuArgThrProLeuProGlyValIleProAlaArgProAspGlyGluProLysGlyProLeuProAspPheProTyrProTyrGlnTyrProAlaAlaProGlyProArgAlaProSerProProGluAlaAlaLeuGlnProAlaProThrGluProArgTyrSerValValGlnArgHisHisValAspLeuGlnAspTyrArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluGluArgLeuPheValAsnGluGluAsnValAsnGluPheLeuGluGluValLeuSerSerProPheLysGlnSerMetSerLeuThrProProLeuIleGluValLeuGlnValThrAspAsnLysIleGlnIleAsnAlaLysLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744587",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298292.13:c.23C>A"
          },
          "RefSeq": {
            "hgvs": "NM_018139.3:c.23C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298292.8:p.Ser8Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060609.2:p.Ser8Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "referenceAllele": "C",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "ENST00000298292.12:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298292.8:p.Ser8Ter",
        "hgvsWellDefined": "ENSP00000298292.8:p.Ser9_Asp837delinsLeuGluAspLeuAspLeuSerGlyGluGluValGlnArgLeuThrSerAlaPheGlnAspProGluPheArgArgMetPheSerGlnTyrAlaGluGluLeuThrAspProGluAsnArgArgArgTyrGluAlaGluIleThrAlaLeuGluArgGluArgGlyValGluValArgPheValHisProGluProGlyHisValLeuArgThrSerLeuAspGlyAlaArgArgCysPheValAsnValCysSerAsnAlaLeuValGlyAlaProSerSerArgProGlySerGlyGlyAspArgGlyAlaAlaProGlySerHisTrpSerLeuProTyrSerLeuAlaProGlyArgGluTyrAlaGlyArgSerSerSerArgTyrMetValTyrAspValValPheHisProAspAlaLeuAlaLeuAlaArgArgHisGluGlyPheArgGlnMetLeuAspAlaThrAlaLeuGluAlaValGluLysGlnPheGlyValLysLeuAspArgArgAsnAlaLysThrLeuLysAlaLysTyrLysGlyThrProGluAlaAlaValLeuArgThrProLeuProGlyValIleProAlaArgProAspGlyGluProLysGlyProLeuProAspPheProTyrProTyrGlnTyrProAlaAlaProGlyProArgAlaProSerProProGluAlaAlaLeuGlnProAlaProThrGluProArgTyrSerValValGlnArgHisHisValAspLeuGlnAspTyrArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluGluArgLeuPheValAsnGluGluAsnValAsnGluPheLeuGluGluValLeuSerSerProPheLysGlnSerMetSerLeuThrProProLeuIleGluValLeuGlnValThrAspAsnLysIleGlnIleAsnAlaLysLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "referenceAllele": "C",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "ENST00000406043.3:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384862.3:p.Ser8Ter",
        "hgvsWellDefined": "ENSP00000384862.3:p.Ser9_Asp789delinsLeuGluAspLeuAspLeuSerGlyGluGluValGlnArgLeuThrSerAlaPheGlnAspProGluPheArgArgMetPheSerGlnTyrAlaGluGluLeuThrAspProGluAsnArgArgArgTyrGluAlaGluIleThrAlaLeuGluArgGluArgGlyValGluValArgPheValHisProGluProGlyHisValLeuArgThrSerLeuAspGlyAlaArgArgCysPheValAsnValCysSerAsnAlaLeuValGlyAlaProSerSerArgProGlySerGlyGlyAspArgGlyAlaAlaProGlySerHisTrpSerLeuProTyrSerLeuAlaProGlyArgGluTyrAlaGlyArgSerSerSerArgTyrMetValTyrAspValValPheHisProAspAlaLeuAlaLeuAlaArgArgHisGluGlyPheArgGlnMetLeuAspAlaThrAlaLeuGluAlaValGluLysGlnPheGlyValLysLeuAspArgArgAsnAlaLysThrLeuLysAlaLysTyrLysGlyThrProGluAlaAlaValLeuArgThrProLeuProGlyValIleProAlaArgProAspGlyGluProLysGlyProLeuProAspPheProTyrProTyrGlnTyrProAlaAlaProGlyProArgAlaProSerProProGluAlaAlaLeuGlnProAlaProThrGluProArgTyrSerValValGlnArgHisHisValAspLeuGlnAspTyrArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825515713",
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "referenceAllele": "C",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_001083908.1:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077377.1:p.Ser8Ter",
        "hgvsWellDefined": "NP_001077377.1:p.Ser9_Asp789delinsLeuGluAspLeuAspLeuSerGlyGluGluValGlnArgLeuThrSerAlaPheGlnAspProGluPheArgArgMetPheSerGlnTyrAlaGluGluLeuThrAspProGluAsnArgArgArgTyrGluAlaGluIleThrAlaLeuGluArgGluArgGlyValGluValArgPheValHisProGluProGlyHisValLeuArgThrSerLeuAspGlyAlaArgArgCysPheValAsnValCysSerAsnAlaLeuValGlyAlaProSerSerArgProGlySerGlyGlyAspArgGlyAlaAlaProGlySerHisTrpSerLeuProTyrSerLeuAlaProGlyArgGluTyrAlaGlyArgSerSerSerArgTyrMetValTyrAspValValPheHisProAspAlaLeuAlaLeuAlaArgArgHisGluGlyPheArgGlnMetLeuAspAlaThrAlaLeuGluAlaValGluLysGlnPheGlyValLysLeuAspArgArgAsnAlaLysThrLeuLysAlaLysTyrLysGlyThrProGluAlaAlaValLeuArgThrProLeuProGlyValIleProAlaArgProAspGlyGluProLysGlyProLeuProAspPheProTyrProTyrGlnTyrProAlaAlaProGlyProArgAlaProSerProProGluAlaAlaLeuGlnProAlaProThrGluProArgTyrSerValValGlnArgHisHisValAspLeuGlnAspTyrArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251490",
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "referenceAllele": "C",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_018139.2:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060609.2:p.Ser8Ter",
        "hgvsWellDefined": "NP_060609.2:p.Ser9_Asp837delinsLeuGluAspLeuAspLeuSerGlyGluGluValGlnArgLeuThrSerAlaPheGlnAspProGluPheArgArgMetPheSerGlnTyrAlaGluGluLeuThrAspProGluAsnArgArgArgTyrGluAlaGluIleThrAlaLeuGluArgGluArgGlyValGluValArgPheValHisProGluProGlyHisValLeuArgThrSerLeuAspGlyAlaArgArgCysPheValAsnValCysSerAsnAlaLeuValGlyAlaProSerSerArgProGlySerGlyGlyAspArgGlyAlaAlaProGlySerHisTrpSerLeuProTyrSerLeuAlaProGlyArgGluTyrAlaGlyArgSerSerSerArgTyrMetValTyrAspValValPheHisProAspAlaLeuAlaLeuAlaArgArgHisGluGlyPheArgGlnMetLeuAspAlaThrAlaLeuGluAlaValGluLysGlnPheGlyValLysLeuAspArgArgAsnAlaLysThrLeuLysAlaLysTyrLysGlyThrProGluAlaAlaValLeuArgThrProLeuProGlyValIleProAlaArgProAspGlyGluProLysGlyProLeuProAspPheProTyrProTyrGlnTyrProAlaAlaProGlyProArgAlaProSerProProGluAlaAlaLeuGlnProAlaProThrGluProArgTyrSerValValGlnArgHisHisValAspLeuGlnAspTyrArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluGluArgLeuPheValAsnGluGluAsnValAsnGluPheLeuGluGluValLeuSerSerProPheLysGlnSerMetSerLeuThrProProLeuIleGluValLeuGlnValThrAspAsnLysIleGlnIleAsnAlaLysLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825515713",
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_001083908.2:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077377.1:p.Ser8Ter",
        "hgvsWellDefined": "NP_001077377.1:p.Ser9_Asp789delinsLeuGluAspLeuAspLeuSerGlyGluGluValGlnArgLeuThrSerAlaPheGlnAspProGluPheArgArgMetPheSerGlnTyrAlaGluGluLeuThrAspProGluAsnArgArgArgTyrGluAlaGluIleThrAlaLeuGluArgGluArgGlyValGluValArgPheValHisProGluProGlyHisValLeuArgThrSerLeuAspGlyAlaArgArgCysPheValAsnValCysSerAsnAlaLeuValGlyAlaProSerSerArgProGlySerGlyGlyAspArgGlyAlaAlaProGlySerHisTrpSerLeuProTyrSerLeuAlaProGlyArgGluTyrAlaGlyArgSerSerSerArgTyrMetValTyrAspValValPheHisProAspAlaLeuAlaLeuAlaArgArgHisGluGlyPheArgGlnMetLeuAspAlaThrAlaLeuGluAlaValGluLysGlnPheGlyValLysLeuAspArgArgAsnAlaLysThrLeuLysAlaLysTyrLysGlyThrProGluAlaAlaValLeuArgThrProLeuProGlyValIleProAlaArgProAspGlyGluProLysGlyProLeuProAspPheProTyrProTyrGlnTyrProAlaAlaProGlyProArgAlaProSerProProGluAlaAlaLeuGlnProAlaProThrGluProArgTyrSerValValGlnArgHisHisValAspLeuGlnAspTyrArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711873"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251490",
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "C",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NM_018139.3:c.23C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060609.2:p.Ser8Ter",
        "hgvsWellDefined": "NP_060609.2:p.Ser9_Asp837delinsLeuGluAspLeuAspLeuSerGlyGluGluValGlnArgLeuThrSerAlaPheGlnAspProGluPheArgArgMetPheSerGlnTyrAlaGluGluLeuThrAspProGluAsnArgArgArgTyrGluAlaGluIleThrAlaLeuGluArgGluArgGlyValGluValArgPheValHisProGluProGlyHisValLeuArgThrSerLeuAspGlyAlaArgArgCysPheValAsnValCysSerAsnAlaLeuValGlyAlaProSerSerArgProGlySerGlyGlyAspArgGlyAlaAlaProGlySerHisTrpSerLeuProTyrSerLeuAlaProGlyArgGluTyrAlaGlyArgSerSerSerArgTyrMetValTyrAspValValPheHisProAspAlaLeuAlaLeuAlaArgArgHisGluGlyPheArgGlnMetLeuAspAlaThrAlaLeuGluAlaValGluLysGlnPheGlyValLysLeuAspArgArgAsnAlaLysThrLeuLysAlaLysTyrLysGlyThrProGluAlaAlaValLeuArgThrProLeuProGlyValIleProAlaArgProAspGlyGluProLysGlyProLeuProAspPheProTyrProTyrGlnTyrProAlaAlaProGlyProArgAlaProSerProProGluAlaAlaLeuGlnProAlaProThrGluProArgTyrSerValValGlnArgHisHisValAspLeuGlnAspTyrArgCysSerArgAspSerAlaProSerProValProHisGluLeuValIleThrIleGluLeuProLeuLeuArgSerAlaGluGlnAlaAlaLeuGluValThrArgLysLeuLeuCysLeuAspSerArgLysProAspTyrArgLeuArgLeuSerLeuProTyrProValAspAspGlyArgGlyLysAlaGlnPheAsnLysAlaArgArgGlnLeuValValThrLeuProValValLeuProAlaAlaArgArgGluProAlaValAlaValAlaAlaAlaAlaProGluGluSerAlaAspArgSerGlyThrAspGlyGlnAlaCysAlaSerAlaArgGluGlyGluAlaGlyProAlaArgSerArgAlaGluAspGlyGlyHisAspThrCysValAlaGlyAlaAlaGlySerGlyValThrThrLeuGlyAspProGluValAlaProProProAlaAlaAlaGlyGluGluArgValProLysProGlyGluGlnAspLeuSerArgHisAlaGlySerProProGlySerValGluGluProSerProGlyGlyGluAsnSerProGlyGlyGlyGlySerProCysLeuSerSerArgSerLeuAlaTrpGlySerSerAlaGlyArgGluSerAlaArgGlyAspSerSerValGluThrArgGluGluSerGluGlyThrGlyGlyGlnArgSerAlaCysAlaMetGlyGlyProGlyThrLysSerGlyGluProLeuCysProProLeuLeuCysAsnGlnAspLysGluThrLeuThrLeuLeuIleGlnValProArgIleGlnProGlnSerLeuGlnGlyAspLeuAsnProLeuTrpTyrLysLeuArgPheSerAlaGlnAspLeuValTyrSerPhePheLeuGlnPheAlaProGluAsnLysLeuSerThrThrGluProValIleSerIleSerSerAsnAsnAlaValIleGluLeuAlaLysSerProGluSerHisGlyHisTrpArgGluTrpTyrTyrGlyValAsnAsnAspSerLeuGluGluArgLeuPheValAsnGluGluAsnValAsnGluPheLeuGluGluValLeuSerSerProPheLysGlnSerMetSerLeuThrProProLeuIleGluValLeuGlnValThrAspAsnLysIleGlnIleAsnAlaLysLeuGlnGluCysSerAsnSerAspGlnLeuGlnGlyLysGluGluArgValAsnGluGluSerHisLeuThrGluLysGluTyrIleGluHisCysAsnThrProThrThrAspSerAspSerSerIleAlaValLysAlaLeuGlnIleAspSerPheGlyLeuValThrCysPheGlnGlnGluSerLeuAspValSerGlnMetIleLeuGlyLysSerGlnGlnProGluSerLysMetGlnSerGluPheIleLysGluLysSerAlaThrCysSerAsnGluGluLysAspAsnLeuAsnGluSerValIleThrGluGluLysGluThrAspGlyAspHisLeuSerSerLeuLeuAsnLysThrThrValHisAsnIleProGlyPheAspSerIleLysGluThrAsnMetGlnAspGlySerValGlnValIleLysAspHisValThrAsnCysAlaPheSerPheGlnAsnSerLeuLeuTyrAspLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298292.13:c.23C>A"
          },
          "RefSeq": {
            "hgvs": "NM_018139.3:c.23C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298292.8:p.Ser8Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060609.2:p.Ser8Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}