{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343683837",
  "communityStandardTitle": [
    "NM_005562.3(LAMC2):c.1065C>A (p.Tyr355Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183194854C>A?assembly=hg19",
        "id": "chr1:g.183194854C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183225719C>A?assembly=hg38",
        "id": "chr1:g.183225719C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203899",
        "rs": 118203899
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-183225719-C-A?dataset=gnomad_r4",
        "id": "1-183225719-C-A",
        "variant": "1:183225719 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 183225719,
          "referenceAllele": "C",
          "start": 183225718
        }
      ],
      "hgvs": [
        "NC_000001.11:g.183225719C>A",
        "CM000663.2:g.183225719C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 183194854,
          "referenceAllele": "C",
          "start": 183194853
        }
      ],
      "hgvs": [
        "NC_000001.10:g.183194854C>A",
        "CM000663.1:g.183194854C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 181461477,
          "referenceAllele": "C",
          "start": 181461476
        }
      ],
      "hgvs": [
        "NC_000001.9:g.181461477C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44456,
          "referenceAllele": "C",
          "start": 44455
        }
      ],
      "hgvs": [
        "NG_007079.2:g.44456C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000459"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.5:c.1065C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Tyr355Ter",
        "hgvsWellDefined": "ENSP00000264144.4:p.Tyr355_Gln1193delinsSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.1065C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.1065C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Tyr355Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Tyr355Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.4:c.1065C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Tyr355Ter",
        "hgvsWellDefined": "ENSP00000264144.4:p.Tyr355_Gln1193delinsSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000493293.5:c.1065C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432063.1:p.Tyr355Ter",
        "hgvsWellDefined": "ENSP00000432063.1:p.Tyr355_Met1111delinsSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257290",
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "referenceAllele": "C",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.2:c.1065C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Tyr355Ter",
        "hgvsWellDefined": "NP_005553.2:p.Tyr355_Gln1193delinsSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068499",
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "referenceAllele": "C",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.2:c.1065C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:p.Tyr355Ter",
        "hgvsWellDefined": "NP_061486.2:p.Tyr355_Met1111delinsSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "XM_017001273.2:c.1065C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856762.1:p.Tyr355Ter",
        "hgvsWellDefined": "XP_016856762.1:p.Tyr355_Arg742delinsSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA257290",
      "coordinates": [
        {
          "allele": "A",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.3:c.1065C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Tyr355Ter",
        "hgvsWellDefined": "NP_005553.2:p.Tyr355_Gln1193delinsSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.1065C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.1065C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Tyr355Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Tyr355Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068499",
      "coordinates": [
        {
          "allele": "A",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.3:c.1065C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:p.Tyr355Ter",
        "hgvsWellDefined": "NP_061486.2:p.Tyr355_Met1111delinsSerThrGlyTyrIleAspAsnValThrLeuIleSerAlaArgProValSerGlyAlaProAlaProTrpValGluGlnCysIleCysProValGlyTyrLysGlyGlnPheCysGlnAspCysAlaSerGlyTyrLysArgAspSerAlaArgLeuGlyProPheGlyThrCysIleProCysAsnCysGlnGlyGlyGlyAlaCysAspProAspThrGlyAspCysTyrSerGlyAspGluAsnProAspIleGluCysAlaAspCysProIleGlyPheTyrAsnAspProHisAspProArgSerCysLysProCysProCysHisAsnGlyPheSerCysSerValMetProGluThrGluGluValValCysAsnAsnCysProProGlyValThrGlyAlaArgCysGluLeuCysAlaAspGlyTyrPheGlyAspProPheGlyGluHisGlyProValArgProCysGlnProCysGlnCysAsnAsnAsnValAspProSerAlaSerGlyAsnCysAspArgLeuThrGlyArgCysLeuLysCysIleHisAsnThrAlaGlyIleTyrCysAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698092"
    }
  ],
  "type": "nucleotide"
}