{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279498",
  "communityStandardTitle": [
    "NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214318[alleleid]",
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217699",
        "RCV": [
          "RCV000201712"
        ],
        "variationId": 217699
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.124179823G>T?assembly=hg19",
        "id": "chr12:g.124179823G>T"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.123695276G>T?assembly=hg38",
        "id": "chr12:g.123695276G>T"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225221",
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      "referenceSequence": "http://reg.genome.network/refseq/RS779135"
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      "referenceSequence": "http://reg.genome.network/refseq/RS780116"
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      "referenceSequence": "http://reg.genome.network/refseq/RS255308"
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      "referenceSequence": "http://reg.genome.network/refseq/RS073230"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
        "hgvs": "XP_011537050.1:p.Glu127Ter",
        "hgvsWellDefined": "XP_011537050.1:p.Glu128_Ser393delinsLeuSerGlyAsnProGlyTyrGlnLeuGlyLysProValArgAlaLeuAsnIleAsnArgMetAsnAsnValThrThrLeuHisLeuTrpGlnSerAlaGlyArgGlyLeuCysThrSerAlaThrPheLysProIleLeuPheGlyGluAsnValLeuSerGlyCysLeuLeuGluValGlyIleAsnGluAsnCysThrGlnLeuArgGluAsnAlaValGluArgLeuAspSerLeuIleGlnAlaThrHisValAlaMetArgGlyAsnSerAspTyrAlaAspLeuSerAspGlyTrpLeuGluIleIleArgValAspAlaProAspProGlyAlaAspProLeuAlaSerSerValAsnGlyMetCysLeuAspIleProAlaHisLeuSerIleArgIleLeuIleSerAspAlaGlyAlaValGluGlyIleThrGlnGlnGluIleLeuGlyValGluThrArgPheSerSerValAsnTrpGlnTyrGlnCysGlyLeuThrCysGluHisLysAlaAspLeuLeuProIleSerAlaSerValGlnPheIleLysIleProAlaGlnLeuProHisProLeuThrArgPheGlnIleAsnTyrThrGluTyrAspCysAsnArgAsnGluValCysTrpProGlnLeuLeuTyrProTrpThrGlnTyrTyrGlnGlyGluLeuHisSerGlnCysValAlaLysGlyLeuLeuLeuLeuLeuPheLeuThrLeuAlaLeuPheLeuSerAsnProTrpThrArgIleCysLysAlaTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025774",
      "geneNCBI_id": 79867,
      "geneSymbol": "TCTN2",
      "hgvs": [
        "XM_006719605.3:c.1291G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719668.1:p.Glu431Ter",
        "hgvsWellDefined": "XP_006719668.1:p.Glu432_Gly662delinsLeuSerGlyAsnProGlyTyrGlnLeuGlyLysProValArgAlaLeuAsnIleAsnArgMetAsnAsnValThrThrLeuHisLeuTrpGlnSerAlaGlyArgGlyLeuCysThrSerAlaThrPheLysProIleLeuPheGlyGluAsnValLeuSerGlyCysLeuLeuGluValGlyIleAsnGluAsnCysThrGlnLeuArgGluAsnAlaValGluArgLeuAspSerLeuIleGlnAlaThrHisValAlaMetArgGlyAsnSerAspTyrAlaAspLeuSerAspGlyTrpLeuGluIleIleArgValAspAlaProAspProGlyAlaAspProLeuAlaSerSerValAsnGlyMetCysLeuAspIleProAlaHisLeuSerIleArgIleLeuIleSerAspAlaGlyAlaValGluGlyIleThrGlnGlnGluIleLeuGlyValGluThrArgPheSerSerValAsnTrpGlnTyrGlnCysGlyLeuThrCysGluHisLysAlaAspLeuLeuProIleSerAlaSerValGlnPheIleLysIleProAlaGlnLeuProHisProLeuThrArgPheGlnIleAsnTyrThrGluTyrAspCysAsnArgAsnGluValCysTrpProGlnLeuLeuTyrProTrpThrGlnTyrTyrGlnGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025774",
      "geneNCBI_id": 79867,
      "geneSymbol": "TCTN2",
      "hgvs": [
        "XM_017019974.1:c.1153G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875463.1:p.Glu385Ter",
        "hgvsWellDefined": "XP_016875463.1:p.Glu386_Ser651delinsLeuSerGlyAsnProGlyTyrGlnLeuGlyLysProValArgAlaLeuAsnIleAsnArgMetAsnAsnValThrThrLeuHisLeuTrpGlnSerAlaGlyArgGlyLeuCysThrSerAlaThrPheLysProIleLeuPheGlyGluAsnValLeuSerGlyCysLeuLeuGluValGlyIleAsnGluAsnCysThrGlnLeuArgGluAsnAlaValGluArgLeuAspSerLeuIleGlnAlaThrHisValAlaMetArgGlyAsnSerAspTyrAlaAspLeuSerAspGlyTrpLeuGluIleIleArgValAspAlaProAspProGlyAlaAspProLeuAlaSerSerValAsnGlyMetCysLeuAspIleProAlaHisLeuSerIleArgIleLeuIleSerAspAlaGlyAlaValGluGlyIleThrGlnGlnGluIleLeuGlyValGluThrArgPheSerSerValAsnTrpGlnTyrGlnCysGlyLeuThrCysGluHisLysAlaAspLeuLeuProIleSerAlaSerValGlnPheIleLysIleProAlaGlnLeuProHisProLeuThrArgPheGlnIleAsnTyrThrGluTyrAspCysAsnArgAsnGluValCysTrpProGlnLeuLeuTyrProTrpThrGlnTyrTyrGlnGlyGluLeuHisSerGlnCysValAlaLysGlyLeuLeuLeuLeuLeuPheLeuThrLeuAlaLeuPheLeuSerAsnProTrpThrArgIleCysLysAlaTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "G",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025774",
      "geneNCBI_id": 79867,
      "geneSymbol": "TCTN2",
      "hgvs": [
        "XM_017019975.1:c.379G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875464.1:p.Glu127Ter",
        "hgvsWellDefined": "XP_016875464.1:p.Glu128_Ser393delinsLeuSerGlyAsnProGlyTyrGlnLeuGlyLysProValArgAlaLeuAsnIleAsnArgMetAsnAsnValThrThrLeuHisLeuTrpGlnSerAlaGlyArgGlyLeuCysThrSerAlaThrPheLysProIleLeuPheGlyGluAsnValLeuSerGlyCysLeuLeuGluValGlyIleAsnGluAsnCysThrGlnLeuArgGluAsnAlaValGluArgLeuAspSerLeuIleGlnAlaThrHisValAlaMetArgGlyAsnSerAspTyrAlaAspLeuSerAspGlyTrpLeuGluIleIleArgValAspAlaProAspProGlyAlaAspProLeuAlaSerSerValAsnGlyMetCysLeuAspIleProAlaHisLeuSerIleArgIleLeuIleSerAspAlaGlyAlaValGluGlyIleThrGlnGlnGluIleLeuGlyValGluThrArgPheSerSerValAsnTrpGlnTyrGlnCysGlyLeuThrCysGluHisLysAlaAspLeuLeuProIleSerAlaSerValGlnPheIleLysIleProAlaGlnLeuProHisProLeuThrArgPheGlnIleAsnTyrThrGluTyrAspCysAsnArgAsnGluValCysTrpProGlnLeuLeuTyrProTrpThrGlnTyrTyrGlnGlyGluLeuHisSerGlnCysValAlaLysGlyLeuLeuLeuLeuLeuPheLeuThrLeuAlaLeuPheLeuSerAsnProTrpThrArgIleCysLysAlaTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279499",
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025774",
      "geneNCBI_id": 79867,
      "geneSymbol": "TCTN2",
      "hgvs": [
        "NM_024809.5:c.1291G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079085.2:p.Glu431Ter",
        "hgvsWellDefined": "NP_079085.2:p.Glu432_Ser697delinsLeuSerGlyAsnProGlyTyrGlnLeuGlyLysProValArgAlaLeuAsnIleAsnArgMetAsnAsnValThrThrLeuHisLeuTrpGlnSerAlaGlyArgGlyLeuCysThrSerAlaThrPheLysProIleLeuPheGlyGluAsnValLeuSerGlyCysLeuLeuGluValGlyIleAsnGluAsnCysThrGlnLeuArgGluAsnAlaValGluArgLeuAspSerLeuIleGlnAlaThrHisValAlaMetArgGlyAsnSerAspTyrAlaAspLeuSerAspGlyTrpLeuGluIleIleArgValAspAlaProAspProGlyAlaAspProLeuAlaSerSerValAsnGlyMetCysLeuAspIleProAlaHisLeuSerIleArgIleLeuIleSerAspAlaGlyAlaValGluGlyIleThrGlnGlnGluIleLeuGlyValGluThrArgPheSerSerValAsnTrpGlnTyrGlnCysGlyLeuThrCysGluHisLysAlaAspLeuLeuProIleSerAlaSerValGlnPheIleLysIleProAlaGlnLeuProHisProLeuThrArgPheGlnIleAsnTyrThrGluTyrAspCysAsnArgAsnGluValCysTrpProGlnLeuLeuTyrProTrpThrGlnTyrTyrGlnGlyGluLeuHisSerGlnCysValAlaLysGlyLeuLeuLeuLeuLeuPheLeuThrLeuAlaLeuPheLeuSerAsnProTrpThrArgIleCysLysAlaTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303372.7:c.1291G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024809.5:c.1291G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304941.5:p.Glu431Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079085.2:p.Glu431Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825858713",
      "coordinates": [
        {
          "allele": "T",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025774",
      "geneNCBI_id": 79867,
      "geneSymbol": "TCTN2",
      "hgvs": [
        "NM_001143850.3:c.1288G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137322.1:p.Glu430Ter",
        "hgvsWellDefined": "NP_001137322.1:p.Glu431_Ser696delinsLeuSerGlyAsnProGlyTyrGlnLeuGlyLysProValArgAlaLeuAsnIleAsnArgMetAsnAsnValThrThrLeuHisLeuTrpGlnSerAlaGlyArgGlyLeuCysThrSerAlaThrPheLysProIleLeuPheGlyGluAsnValLeuSerGlyCysLeuLeuGluValGlyIleAsnGluAsnCysThrGlnLeuArgGluAsnAlaValGluArgLeuAspSerLeuIleGlnAlaThrHisValAlaMetArgGlyAsnSerAspTyrAlaAspLeuSerAspGlyTrpLeuGluIleIleArgValAspAlaProAspProGlyAlaAspProLeuAlaSerSerValAsnGlyMetCysLeuAspIleProAlaHisLeuSerIleArgIleLeuIleSerAspAlaGlyAlaValGluGlyIleThrGlnGlnGluIleLeuGlyValGluThrArgPheSerSerValAsnTrpGlnTyrGlnCysGlyLeuThrCysGluHisLysAlaAspLeuLeuProIleSerAlaSerValGlnPheIleLysIleProAlaGlnLeuProHisProLeuThrArgPheGlnIleAsnTyrThrGluTyrAspCysAsnArgAsnGluValCysTrpProGlnLeuLeuTyrProTrpThrGlnTyrTyrGlnGlyGluLeuHisSerGlnCysValAlaLysGlyLeuLeuLeuLeuLeuPheLeuThrLeuAlaLeuPheLeuSerAsnProTrpThrArgIleCysLysAlaTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677670"
    }
  ],
  "type": "nucleotide"
}