{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343154",
  "communityStandardTitle": [
    "NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47510[alleleid]",
        "alleleId": 47510,
        "preferredName": "NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38907",
        "RCV": [
          "RCV000032155",
          "RCV001389330"
        ],
        "variationId": 38907
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-90319829-G-T",
        "id": "15-90319829-G-T",
        "variant": "15:90319829 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90319829G>T?assembly=hg19",
        "id": "chr15:g.90319829G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89776598G>T?assembly=hg38",
        "id": "chr15:g.89776598G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204034",
        "rs": 118204034
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-90319829-G-T?dataset=gnomad_r2_1",
        "id": "15-90319829-G-T",
        "variant": "15:90319829 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89776598-G-T?dataset=gnomad_r3",
        "id": "15-89776598-G-T",
        "variant": "15:89776598 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89776598-G-T?dataset=gnomad_r4",
        "id": "15-89776598-G-T",
        "variant": "15:89776598 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 89776598,
          "referenceAllele": "G",
          "start": 89776597
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89776598G>T",
        "CM000677.2:g.89776598G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 90319829,
          "referenceAllele": "G",
          "start": 90319828
        }
      ],
      "hgvs": [
        "NC_000015.9:g.90319829G>T",
        "CM000677.1:g.90319829G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 88120833,
          "referenceAllele": "G",
          "start": 88120832
        }
      ],
      "hgvs": [
        "NC_000015.8:g.88120833G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5241,
          "referenceAllele": "G",
          "start": 5240
        }
      ],
      "hgvs": [
        "NG_008608.1:g.5241G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21008,
          "referenceAllele": "G",
          "start": 21007
        }
      ],
      "hgvs": [
        "NG_008608.2:g.21008G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673505"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 267,
          "referenceAllele": "G",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029659",
      "geneNCBI_id": 145873,
      "geneSymbol": "MESP2",
      "hgvs": [
        "ENST00000341735.5:c.241G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342392.3:p.Gly81Ter",
        "hgvsWellDefined": "ENSP00000342392.3:p.Gly81_Tyr397delinsGlnArgGlnSerAlaSerGluArgGluLysLeuArgMetArgThrLeuAlaArgAlaLeuHisGluLeuArgArgPheLeuProProSerLeuAlaProAlaGlyGlnSerLeuThrLysIleGluThrLeuArgLeuAlaIleArgTyrIleGlyHisLeuSerAlaValLeuGlyLeuSerGluGluSerLeuGlnCysArgArgArgGlnArgGlyAspAlaGlySerProTrpGlyCysProLeuCysProAspArgGlyProAlaGluAlaGlnThrGlnAlaGluGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyArgArgProGlyLeuValSerAlaValLeuAlaGluAlaSerTrpGlySerProSerAlaCysProGlyAlaGlnAlaAlaProGluArgLeuGlyArgGlyValHisAspThrAspProTrpAlaThrProProTyrCysProLysIleGlnSerProProTyrSerSerGlnGlyThrThrSerAspAlaSerLeuTrpThrProProGlnGlyCysProTrpThrGlnSerSerProGluProArgAsnProProValProTrpThrAlaAlaProAlaThrLeuGluLeuAlaAlaValTyrGlnGlyLeuSerValSerProGluProCysLeuSerLeuGlyAlaProSerLeuLeuProHisProSerCysGlnArgLeuGlnProGlnThrProGlyArgCysTrpSerHisSerAlaGluValValProAsnSerGluAspGlnGlyProGlyAlaAlaPheGlnLeuSerGluAlaSerProProGlnSerSerGlyLeuArgPheSerGlyCysProGluLeuTrpGlnGluAspLeuGluGlyAlaArgLeuGlyIlePheTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341735.5:c.241G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001039958.2:c.241G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342392.3:p.Gly81Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001035047.1:p.Gly81Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029659",
      "geneNCBI_id": 145873,
      "geneSymbol": "MESP2",
      "hgvs": [
        "ENST00000341735.3:c.241G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342392.3:p.Gly81Ter",
        "hgvsWellDefined": "ENSP00000342392.3:p.Gly81_Tyr397delinsGlnArgGlnSerAlaSerGluArgGluLysLeuArgMetArgThrLeuAlaArgAlaLeuHisGluLeuArgArgPheLeuProProSerLeuAlaProAlaGlyGlnSerLeuThrLysIleGluThrLeuArgLeuAlaIleArgTyrIleGlyHisLeuSerAlaValLeuGlyLeuSerGluGluSerLeuGlnCysArgArgArgGlnArgGlyAspAlaGlySerProTrpGlyCysProLeuCysProAspArgGlyProAlaGluAlaGlnThrGlnAlaGluGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyArgArgProGlyLeuValSerAlaValLeuAlaGluAlaSerTrpGlySerProSerAlaCysProGlyAlaGlnAlaAlaProGluArgLeuGlyArgGlyValHisAspThrAspProTrpAlaThrProProTyrCysProLysIleGlnSerProProTyrSerSerGlnGlyThrThrSerAspAlaSerLeuTrpThrProProGlnGlyCysProTrpThrGlnSerSerProGluProArgAsnProProValProTrpThrAlaAlaProAlaThrLeuGluLeuAlaAlaValTyrGlnGlyLeuSerValSerProGluProCysLeuSerLeuGlyAlaProSerLeuLeuProHisProSerCysGlnArgLeuGlnProGlnThrProGlyArgCysTrpSerHisSerAlaGluValValProAsnSerGluAspGlnGlyProGlyAlaAlaPheGlnLeuSerGluAlaSerProProGlnSerSerGlyLeuArgPheSerGlyCysProGluLeuTrpGlnGluAspLeuGluGlyAlaArgLeuGlyIlePheTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "endIntronDirection": "-",
          "endIntronOffset": 1466,
          "referenceAllele": "G",
          "start": 38,
          "startIntronDirection": "-",
          "startIntronOffset": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029659",
      "geneNCBI_id": 145873,
      "geneSymbol": "MESP2",
      "hgvs": [
        "ENST00000558723.1:n.39-1467G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "endIntronDirection": "-",
          "endIntronOffset": 1466,
          "referenceAllele": "G",
          "start": 169,
          "startIntronDirection": "-",
          "startIntronOffset": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029659",
      "geneNCBI_id": 145873,
      "geneSymbol": "MESP2",
      "hgvs": [
        "ENST00000560219.2:c.31-1467G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452998.1:n.31-1467G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343155",
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029659",
      "geneNCBI_id": 145873,
      "geneSymbol": "MESP2",
      "hgvs": [
        "NM_001039958.1:c.241G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035047.1:p.Gly81Ter",
        "hgvsWellDefined": "NP_001035047.1:p.Gly81_Tyr397delinsGlnArgGlnSerAlaSerGluArgGluLysLeuArgMetArgThrLeuAlaArgAlaLeuHisGluLeuArgArgPheLeuProProSerLeuAlaProAlaGlyGlnSerLeuThrLysIleGluThrLeuArgLeuAlaIleArgTyrIleGlyHisLeuSerAlaValLeuGlyLeuSerGluGluSerLeuGlnCysArgArgArgGlnArgGlyAspAlaGlySerProTrpGlyCysProLeuCysProAspArgGlyProAlaGluAlaGlnThrGlnAlaGluGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyArgArgProGlyLeuValSerAlaValLeuAlaGluAlaSerTrpGlySerProSerAlaCysProGlyAlaGlnAlaAlaProGluArgLeuGlyArgGlyValHisAspThrAspProTrpAlaThrProProTyrCysProLysIleGlnSerProProTyrSerSerGlnGlyThrThrSerAspAlaSerLeuTrpThrProProGlnGlyCysProTrpThrGlnSerSerProGluProArgAsnProProValProTrpThrAlaAlaProAlaThrLeuGluLeuAlaAlaValTyrGlnGlyLeuSerValSerProGluProCysLeuSerLeuGlyAlaProSerLeuLeuProHisProSerCysGlnArgLeuGlnProGlnThrProGlyArgCysTrpSerHisSerAlaGluValValProAsnSerGluAspGlnGlyProGlyAlaAlaPheGlnLeuSerGluAlaSerProProGlnSerSerGlyLeuArgPheSerGlyCysProGluLeuTrpGlnGluAspLeuGluGlyAlaArgLeuGlyIlePheTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343155",
      "coordinates": [
        {
          "allele": "T",
          "end": 267,
          "referenceAllele": "G",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029659",
      "geneNCBI_id": 145873,
      "geneSymbol": "MESP2",
      "hgvs": [
        "NM_001039958.2:c.241G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035047.1:p.Gly81Ter",
        "hgvsWellDefined": "NP_001035047.1:p.Gly81_Tyr397delinsGlnArgGlnSerAlaSerGluArgGluLysLeuArgMetArgThrLeuAlaArgAlaLeuHisGluLeuArgArgPheLeuProProSerLeuAlaProAlaGlyGlnSerLeuThrLysIleGluThrLeuArgLeuAlaIleArgTyrIleGlyHisLeuSerAlaValLeuGlyLeuSerGluGluSerLeuGlnCysArgArgArgGlnArgGlyAspAlaGlySerProTrpGlyCysProLeuCysProAspArgGlyProAlaGluAlaGlnThrGlnAlaGluGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyGlnGlyArgArgProGlyLeuValSerAlaValLeuAlaGluAlaSerTrpGlySerProSerAlaCysProGlyAlaGlnAlaAlaProGluArgLeuGlyArgGlyValHisAspThrAspProTrpAlaThrProProTyrCysProLysIleGlnSerProProTyrSerSerGlnGlyThrThrSerAspAlaSerLeuTrpThrProProGlnGlyCysProTrpThrGlnSerSerProGluProArgAsnProProValProTrpThrAlaAlaProAlaThrLeuGluLeuAlaAlaValTyrGlnGlyLeuSerValSerProGluProCysLeuSerLeuGlyAlaProSerLeuLeuProHisProSerCysGlnArgLeuGlnProGlnThrProGlyArgCysTrpSerHisSerAlaGluValValProAsnSerGluAspGlnGlyProGlyAlaAlaPheGlnLeuSerGluAlaSerProProGlnSerSerGlyLeuArgPheSerGlyCysProGluLeuTrpGlnGluAspLeuGluGlyAlaArgLeuGlyIlePheTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341735.5:c.241G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001039958.2:c.241G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342392.3:p.Gly81Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001035047.1:p.Gly81Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}