{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257293",
  "communityStandardTitle": [
    "NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29598[alleleid]",
        "alleleId": 29598,
        "preferredName": "NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14559",
        "RCV": [
          "RCV000778201",
          "RCV001055824",
          "RCV002051626"
        ],
        "variationId": 14559
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183191316C>T?assembly=hg19",
        "id": "chr1:g.183191316C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183222181C>T?assembly=hg38",
        "id": "chr1:g.183222181C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203901",
        "rs": 118203901
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-183191316-C-T?dataset=gnomad_r2_1",
        "id": "1-183191316-C-T",
        "variant": "1:183191316 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-183222181-C-T?dataset=gnomad_r3",
        "id": "1-183222181-C-T",
        "variant": "1:183222181 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-183222181-C-T?dataset=gnomad_r4",
        "id": "1-183222181-C-T",
        "variant": "1:183222181 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 183222181,
          "referenceAllele": "C",
          "start": 183222180
        }
      ],
      "hgvs": [
        "NC_000001.11:g.183222181C>T",
        "CM000663.2:g.183222181C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 183191316,
          "referenceAllele": "C",
          "start": 183191315
        }
      ],
      "hgvs": [
        "NC_000001.10:g.183191316C>T",
        "CM000663.1:g.183191316C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 181457939,
          "referenceAllele": "C",
          "start": 181457938
        }
      ],
      "hgvs": [
        "NC_000001.9:g.181457939C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40918,
          "referenceAllele": "C",
          "start": 40917
        }
      ],
      "hgvs": [
        "NG_007079.2:g.40918C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000459"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.5:c.733C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Arg245Ter",
        "hgvsWellDefined": "ENSP00000264144.4:p.Arg245_Gln1193delinsLeuAspProValTyrPheValAlaProAlaLysPheLeuGlyAsnGlnGlnValSerTyrGlyGlnSerLeuSerPheAspTyrArgValAspArgGlyGlyArgHisProSerAlaHisAspValIleLeuGluGlyAlaGlyLeuArgIleThrAlaProLeuMetProLeuGlyLysThrLeuProCysGlyLeuThrLysThrTyrThrPheArgLeuAsnGluHisProSerAsnAsnTrpSerProGlnLeuSerTyrPheGluTyrArgArgLeuLeuArgAsnLeuThrAlaLeuArgIleArgAlaThrTyrGlyGluTyrSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.733C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.733C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Arg245Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Arg245Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.4:c.733C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Arg245Ter",
        "hgvsWellDefined": "ENSP00000264144.4:p.Arg245_Gln1193delinsLeuAspProValTyrPheValAlaProAlaLysPheLeuGlyAsnGlnGlnValSerTyrGlyGlnSerLeuSerPheAspTyrArgValAspArgGlyGlyArgHisProSerAlaHisAspValIleLeuGluGlyAlaGlyLeuArgIleThrAlaProLeuMetProLeuGlyLysThrLeuProCysGlyLeuThrLysThrTyrThrPheArgLeuAsnGluHisProSerAsnAsnTrpSerProGlnLeuSerTyrPheGluTyrArgArgLeuLeuArgAsnLeuThrAlaLeuArgIleArgAlaThrTyrGlyGluTyrSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000493293.5:c.733C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432063.1:p.Arg245Ter",
        "hgvsWellDefined": "ENSP00000432063.1:p.Arg245_Met1111delinsLeuAspProValTyrPheValAlaProAlaLysPheLeuGlyAsnGlnGlnValSerTyrGlyGlnSerLeuSerPheAspTyrArgValAspArgGlyGlyArgHisProSerAlaHisAspValIleLeuGluGlyAlaGlyLeuArgIleThrAlaProLeuMetProLeuGlyLysThrLeuProCysGlyLeuThrLysThrTyrThrPheArgLeuAsnGluHisProSerAsnAsnTrpSerProGlnLeuSerTyrPheGluTyrArgArgLeuLeuArgAsnLeuThrAlaLeuArgIleArgAlaThrTyrGlyGluTyrSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257294",
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.2:c.733C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Arg245Ter",
        "hgvsWellDefined": "NP_005553.2:p.Arg245_Gln1193delinsLeuAspProValTyrPheValAlaProAlaLysPheLeuGlyAsnGlnGlnValSerTyrGlyGlnSerLeuSerPheAspTyrArgValAspArgGlyGlyArgHisProSerAlaHisAspValIleLeuGluGlyAlaGlyLeuArgIleThrAlaProLeuMetProLeuGlyLysThrLeuProCysGlyLeuThrLysThrTyrThrPheArgLeuAsnGluHisProSerAsnAsnTrpSerProGlnLeuSerTyrPheGluTyrArgArgLeuLeuArgAsnLeuThrAlaLeuArgIleArgAlaThrTyrGlyGluTyrSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068483",
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.2:c.733C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:p.Arg245Ter",
        "hgvsWellDefined": "NP_061486.2:p.Arg245_Met1111delinsLeuAspProValTyrPheValAlaProAlaLysPheLeuGlyAsnGlnGlnValSerTyrGlyGlnSerLeuSerPheAspTyrArgValAspArgGlyGlyArgHisProSerAlaHisAspValIleLeuGluGlyAlaGlyLeuArgIleThrAlaProLeuMetProLeuGlyLysThrLeuProCysGlyLeuThrLysThrTyrThrPheArgLeuAsnGluHisProSerAsnAsnTrpSerProGlnLeuSerTyrPheGluTyrArgArgLeuLeuArgAsnLeuThrAlaLeuArgIleArgAlaThrTyrGlyGluTyrSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "XM_017001273.2:c.733C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856762.1:p.Arg245Ter",
        "hgvsWellDefined": "XP_016856762.1:p.Arg245_Arg742delinsLeuAspProValTyrPheValAlaProAlaLysPheLeuGlyAsnGlnGlnValSerTyrGlyGlnSerLeuSerPheAspTyrArgValAspArgGlyGlyArgHisProSerAlaHisAspValIleLeuGluGlyAlaGlyLeuArgIleThrAlaProLeuMetProLeuGlyLysThrLeuProCysGlyLeuThrLysThrTyrThrPheArgLeuAsnGluHisProSerAsnAsnTrpSerProGlnLeuSerTyrPheGluTyrArgArgLeuLeuArgAsnLeuThrAlaLeuArgIleArgAlaThrTyrGlyGluTyrSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257294",
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.3:c.733C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Arg245Ter",
        "hgvsWellDefined": "NP_005553.2:p.Arg245_Gln1193delinsLeuAspProValTyrPheValAlaProAlaLysPheLeuGlyAsnGlnGlnValSerTyrGlyGlnSerLeuSerPheAspTyrArgValAspArgGlyGlyArgHisProSerAlaHisAspValIleLeuGluGlyAlaGlyLeuArgIleThrAlaProLeuMetProLeuGlyLysThrLeuProCysGlyLeuThrLysThrTyrThrPheArgLeuAsnGluHisProSerAsnAsnTrpSerProGlnLeuSerTyrPheGluTyrArgArgLeuLeuArgAsnLeuThrAlaLeuArgIleArgAlaThrTyrGlyGluTyrSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.733C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.733C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Arg245Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Arg245Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068483",
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.3:c.733C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:p.Arg245Ter",
        "hgvsWellDefined": "NP_061486.2:p.Arg245_Met1111delinsLeuAspProValTyrPheValAlaProAlaLysPheLeuGlyAsnGlnGlnValSerTyrGlyGlnSerLeuSerPheAspTyrArgValAspArgGlyGlyArgHisProSerAlaHisAspValIleLeuGluGlyAlaGlyLeuArgIleThrAlaProLeuMetProLeuGlyLysThrLeuProCysGlyLeuThrLysThrTyrThrPheArgLeuAsnGluHisProSerAsnAsnTrpSerProGlnLeuSerTyrPheGluTyrArgArgLeuLeuArgAsnLeuThrAlaLeuArgIleArgAlaThrTyrGlyGluTyrSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698092"
    }
  ],
  "type": "nucleotide"
}