{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399797946",
  "communityStandardTitle": [
    "NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481069[alleleid]",
        "alleleId": 481069,
        "preferredName": "NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488051",
        "RCV": [
          "RCV000577910",
          "RCV002529036"
        ],
        "variationId": 488051
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42636186G>A?assembly=hg19",
        "id": "chr17:g.42636186G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44558818G>A?assembly=hg38",
        "id": "chr17:g.44558818G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555657045",
        "rs": 1555657045
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44558818-G-A?dataset=gnomad_r4",
        "id": "17-44558818-G-A",
        "variant": "17:44558818 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 44558818,
          "referenceAllele": "G",
          "start": 44558817
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44558818G>A",
        "CM000679.2:g.44558818G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42636186,
          "referenceAllele": "G",
          "start": 42636185
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42636186G>A",
        "CM000679.1:g.42636186G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 39991712,
          "referenceAllele": "G",
          "start": 39991711
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39991712G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004040",
      "geneNCBI_id": 2535,
      "geneSymbol": "FZD2",
      "hgvs": [
        "ENST00000315323.5:c.1130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323901.3:p.Trp377Ter",
        "hgvsWellDefined": "ENSP00000323901.3:p.Trp377_Val565delinsAlaValProAlaValLysThrIleThrIleLeuAlaMetGlyGlnIleAspGlyAspLeuLeuSerGlyValCysPheValGlyLeuAsnSerLeuAspProLeuArgGlyPheValLeuAlaProLeuPheValTyrLeuPheIleGlyThrSerPheLeuLeuAlaGlyPheValSerLeuPheArgIleArgThrIleMetLysHisAspGlyThrLysThrGluLysLeuGluArgLeuMetValArgIleGlyValPheSerValLeuTyrThrValProAlaThrIleValIleAlaCysTyrPheTyrGluGlnAlaPheArgGluHisTrpGluArgSerTrpValSerGlnHisCysLysSerLeuAlaIleProCysProAlaHisTyrThrProArgMetSerProAspPheThrValTyrMetIleLysTyrLeuMetThrLeuIleValGlyIleThrSerGlyPheTrpIleTrpSerGlyLysThrLeuHisSerTrpArgLysPheTyrThrArgLeuThrAsnSerArgHisGlyGluThrThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000315323.5:c.1130G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001466.4:c.1130G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323901.3:p.Trp377Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001457.1:p.Trp377Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004040",
      "geneNCBI_id": 2535,
      "geneSymbol": "FZD2",
      "hgvs": [
        "ENST00000315323.4:c.1130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323901.3:p.Trp377Ter",
        "hgvsWellDefined": "ENSP00000323901.3:p.Trp377_Val565delinsAlaValProAlaValLysThrIleThrIleLeuAlaMetGlyGlnIleAspGlyAspLeuLeuSerGlyValCysPheValGlyLeuAsnSerLeuAspProLeuArgGlyPheValLeuAlaProLeuPheValTyrLeuPheIleGlyThrSerPheLeuLeuAlaGlyPheValSerLeuPheArgIleArgThrIleMetLysHisAspGlyThrLysThrGluLysLeuGluArgLeuMetValArgIleGlyValPheSerValLeuTyrThrValProAlaThrIleValIleAlaCysTyrPheTyrGluGlnAlaPheArgGluHisTrpGluArgSerTrpValSerGlnHisCysLysSerLeuAlaIleProCysProAlaHisTyrThrProArgMetSerProAspPheThrValTyrMetIleLysTyrLeuMetThrLeuIleValGlyIleThrSerGlyPheTrpIleTrpSerGlyLysThrLeuHisSerTrpArgLysPheTyrThrArgLeuThrAsnSerArgHisGlyGluThrThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257071"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658680139",
      "coordinates": [
        {
          "allele": "A",
          "end": 1375,
          "referenceAllele": "G",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004040",
      "geneNCBI_id": 2535,
      "geneSymbol": "FZD2",
      "hgvs": [
        "NM_001466.3:c.1130G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001457.1:p.Trp377Ter",
        "hgvsWellDefined": "NP_001457.1:p.Trp377_Val565delinsAlaValProAlaValLysThrIleThrIleLeuAlaMetGlyGlnIleAspGlyAspLeuLeuSerGlyValCysPheValGlyLeuAsnSerLeuAspProLeuArgGlyPheValLeuAlaProLeuPheValTyrLeuPheIleGlyThrSerPheLeuLeuAlaGlyPheValSerLeuPheArgIleArgThrIleMetLysHisAspGlyThrLysThrGluLysLeuGluArgLeuMetValArgIleGlyValPheSerValLeuTyrThrValProAlaThrIleValIleAlaCysTyrPheTyrGluGlnAlaPheArgGluHisTrpGluArgSerTrpValSerGlnHisCysLysSerLeuAlaIleProCysProAlaHisTyrThrProArgMetSerProAspPheThrValTyrMetIleLysTyrLeuMetThrLeuIleValGlyIleThrSerGlyPheTrpIleTrpSerGlyLysThrLeuHisSerTrpArgLysPheTyrThrArgLeuThrAsnSerArgHisGlyGluThrThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658680139",
      "coordinates": [
        {
          "allele": "A",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004040",
      "geneNCBI_id": 2535,
      "geneSymbol": "FZD2",
      "hgvs": [
        "NM_001466.4:c.1130G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001457.1:p.Trp377Ter",
        "hgvsWellDefined": "NP_001457.1:p.Trp377_Val565delinsAlaValProAlaValLysThrIleThrIleLeuAlaMetGlyGlnIleAspGlyAspLeuLeuSerGlyValCysPheValGlyLeuAsnSerLeuAspProLeuArgGlyPheValLeuAlaProLeuPheValTyrLeuPheIleGlyThrSerPheLeuLeuAlaGlyPheValSerLeuPheArgIleArgThrIleMetLysHisAspGlyThrLysThrGluLysLeuGluArgLeuMetValArgIleGlyValPheSerValLeuTyrThrValProAlaThrIleValIleAlaCysTyrPheTyrGluGlnAlaPheArgGluHisTrpGluArgSerTrpValSerGlnHisCysLysSerLeuAlaIleProCysProAlaHisTyrThrProArgMetSerProAspPheThrValTyrMetIleLysTyrLeuMetThrLeuIleValGlyIleThrSerGlyPheTrpIleTrpSerGlyLysThrLeuHisSerTrpArgLysPheTyrThrArgLeuThrAsnSerArgHisGlyGluThrThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000315323.5:c.1130G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001466.4:c.1130G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323901.3:p.Trp377Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001457.1:p.Trp377Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}