{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6955127",
  "communityStandardTitle": [
    "NM_207361.6(FREM2):c.5059G>T (p.Glu1687Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=620472[alleleid]",
        "alleleId": 620472,
        "preferredName": "NM_207361.6(FREM2):c.5059G>T (p.Glu1687Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/631702",
        "RCV": [
          "RCV000778396",
          "RCV001572959"
        ],
        "variationId": 631702
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-39266540-G-T",
        "id": "13-39266540-G-T",
        "variant": "13:39266540 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.39266540G>T?assembly=hg19",
        "id": "chr13:g.39266540G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.38692403G>T?assembly=hg38",
        "id": "chr13:g.38692403G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148965852",
        "rs": 148965852
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-39266540-G-T?dataset=gnomad_r2_1",
        "id": "13-39266540-G-T",
        "variant": "13:39266540 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-38692403-G-T?dataset=gnomad_r3",
        "id": "13-38692403-G-T",
        "variant": "13:38692403 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-38692403-G-T?dataset=gnomad_r4",
        "id": "13-38692403-G-T",
        "variant": "13:38692403 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 38692403,
          "referenceAllele": "G",
          "start": 38692402
        }
      ],
      "hgvs": [
        "NC_000013.11:g.38692403G>T",
        "CM000675.2:g.38692403G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 39266540,
          "referenceAllele": "G",
          "start": 39266539
        }
      ],
      "hgvs": [
        "NC_000013.10:g.39266540G>T",
        "CM000675.1:g.39266540G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 38164540,
          "referenceAllele": "G",
          "start": 38164539
        }
      ],
      "hgvs": [
        "NC_000013.9:g.38164540G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10368,
          "referenceAllele": "G",
          "start": 10367
        }
      ],
      "hgvs": [
        "NG_008125.2:g.10368G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000870"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "ENST00000280481.9:c.5059G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280481.7:p.Glu1687Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280481.9:c.5059G>T"
          },
          "RefSeq": {
            "hgvs": "NM_207361.6:c.5059G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280481.7:p.Glu1687Ter"
          },
          "RefSeq": {
            "hgvs": "NP_997244.4:p.Glu1687Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5275,
          "referenceAllele": "G",
          "start": 5274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "ENST00000280481.8:c.5059G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000280481.7:p.Glu1687Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5368,
          "referenceAllele": "G",
          "start": 5367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NM_207361.5:c.5059G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997244.4:p.Glu1687Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5363,
          "referenceAllele": "G",
          "start": 5362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "XM_011535057.1:c.5059G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533359.1:p.Glu1687Ter",
        "hgvsWellDefined": "XP_011533359.1:p.Glu1687_Asn2311delinsAspArgAspSerLeuHisIleSerLeuArgPheIleValThrGluAlaProGlnHisGlyTyrLeuLeuAsnLeuAspLysGlyAsnHisSerIleThrGlnPheThrGlnAlaAspIleAspAspMetLysIleCysTyrValLeuArgGluGlyAlaAsnAlaThrSerAspMetPheTyrPheAlaValGluAspGlyGlyGlyAsnLysLeuThrTyrGlnAsnPheArgLeuAsnTrpAlaTrpIleSerPheGluLysGluTyrTyrLeuValAsnGluAspSerLysPheLeuAspValValLeuLysArgArgGlyTyrLeuGlyGluThrSerPheIleSerIleGlyThrArgAspArgThrAlaGluLysAspLysAspPheLysGlyLysAlaGlnLysGlnValGlnPheAsnProGlyGlnThrArgAlaThrTrpArgValArgIleLeuSerAspGlyGluHisGluGlnSerGluThrPheGlnValValLeuSerGluProValLeuAlaAlaLeuGluPheProThrValAlaThrValGluIleValAspProGlyAspGluProThrValPheIleProGlnSerLysTyrSerValGluGluAspValGlyGluLeuPheIleProIleArgArgSerGlyAspValSerGlnGluLeuMetValValCysTyrThrGlnGlnGlyThrAlaThrGlyThrValProThrSerValLeuSerTyrSerAspTyrIleSerArgProGluAspHisThrSerValValArgPheAspLysAspGluArgGluLysLeuCysArgIleValIleIleAspAspSerLeuTyrGluGluGluGluThrPheHisValLeuLeuSerMetProMetGlyGlyArgIleGlySerGluPheProGlyAlaGlnValThrIleValProAspLysAspAspGluProIlePheTyrPheGlyAspValGluTyrSerValAspGluSerAlaGlyTyrValGluValGlnValTrpArgThrGlyThrAspLeuSerLysSerSerSerValThrValArgSerArgLysThrAspProProSerAlaAspAlaGlyThrAspTyrValGlyIleSerArgAsnLeuAspPheAlaProGlyValAsnMetGlnProValArgValValIleLeuAspAspLeuGlyGlnProAlaLeuGluGlyIleGluLysPheGluLeuValLeuArgMetProMetAsnAlaAlaLeuGlyGluProSerLysAlaThrValSerIleAsnAspSerValSerAspLeuProLysMetGlnPheLysGluArgIleTyrThrGlySerGluSerAspGlyGlnIleValThrMetIleHisArgThrGlyAspValGlnTyrArgSerSerValArgCysTyrThrArgGlnGlySerAlaGlnValMetMetAspPheGluGluArgProAsnThrAspThrSerIleIleThrPheLeuProGlyGluThrGluLysProCysIleLeuGluLeuMetAspAspValLeuTyrGluGluValGluGluLeuArgLeuValLeuGlyThrProGlnSerAsnSerProPheGlyAlaAlaValGlyGluGlnAsnGluThrLeuIleArgIleArgAspAspAlaAspLysThrValIleLysPheGlyGluThrLysPheSerValThrGluProLysGluProGlyGluSerValValIleArgIleProValIleArgGlnGlyAspThrSerLysValSerIleValArgValHisThrLysAspGlySerAlaThrSerGlyGluAspTyrHisProValSerGluGlySerAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5367,
          "referenceAllele": "G",
          "start": 5366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "XR_941571.1:n.5367G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5363,
          "referenceAllele": "G",
          "start": 5362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "XM_017020554.1:c.5059G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876043.1:p.Glu1687Ter",
        "hgvsWellDefined": "XP_016876043.1:p.Glu1687_Asp1764delinsAspArgAspSerLeuHisIleSerLeuArgPheIleValThrGluAlaProGlnHisGlyTyrLeuLeuAsnLeuAspLysGlyAsnHisSerIleThrGlnPheThrGlnAlaAspIleAspAspMetLysIleCysTyrValLeuArgGluGlyAlaAsnAlaThrSerAspMetPheTyrPheAlaValGluAspGlyAlaLysIleProGlnLysGluArgGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5363,
          "referenceAllele": "G",
          "start": 5362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "XR_941571.2:n.5363G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025396",
      "geneNCBI_id": 341640,
      "geneSymbol": "FREM2",
      "hgvs": [
        "NM_207361.6:c.5059G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997244.4:p.Glu1687Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673302",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280481.9:c.5059G>T"
          },
          "RefSeq": {
            "hgvs": "NM_207361.6:c.5059G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280481.7:p.Glu1687Ter"
          },
          "RefSeq": {
            "hgvs": "NP_997244.4:p.Glu1687Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}