{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA63850985",
  "communityStandardTitle": [
    "NM_012092.4(ICOS):c.61G>T (p.Glu21Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1357286[alleleid]",
        "alleleId": 1357286,
        "preferredName": "NM_012092.4(ICOS):c.61G>T (p.Glu21Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1359008",
        "RCV": [
          "RCV001872150"
        ],
        "variationId": 1359008
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.204820361G>T?assembly=hg19",
        "id": "chr2:g.204820361G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.203955638G>T?assembly=hg38",
        "id": "chr2:g.203955638G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1015881666",
        "rs": 1015881666
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-204820361-G-T?dataset=gnomad_r2_1",
        "id": "2-204820361-G-T",
        "variant": "2:204820361 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-203955638-G-T?dataset=gnomad_r4",
        "id": "2-203955638-G-T",
        "variant": "2:203955638 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 203955638,
          "referenceAllele": "G",
          "start": 203955637
        }
      ],
      "hgvs": [
        "NC_000002.12:g.203955638G>T",
        "CM000664.2:g.203955638G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 204820361,
          "referenceAllele": "G",
          "start": 204820360
        }
      ],
      "hgvs": [
        "NC_000002.11:g.204820361G>T",
        "CM000664.1:g.204820361G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 204528606,
          "referenceAllele": "G",
          "start": 204528605
        }
      ],
      "hgvs": [
        "NC_000002.10:g.204528606G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23859,
          "referenceAllele": "G",
          "start": 23858
        }
      ],
      "hgvs": [
        "NG_011586.1:g.23859G>T",
        "LRG_65:g.23859G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001835"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "referenceAllele": "G",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005351",
      "geneNCBI_id": 29851,
      "geneSymbol": "ICOS",
      "hgvs": [
        "ENST00000316386.11:c.61G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319476.6:p.Glu21Ter",
        "hgvsWellDefined": "ENSP00000319476.6:p.Glu21_Leu199delinsIleAsnGlySerAlaAsnTyrGluMetPheIlePheHisAsnGlyGlyValGlnIleLeuCysLysTyrProAspIleValGlnGlnPheLysMetGlnLeuLeuLysGlyGlyGlnIleLeuCysAspLeuThrLysThrLysGlySerGlyAsnThrValSerIleLysSerLeuLysPheCysHisSerGlnLeuSerAsnAsnSerValSerPhePheLeuTyrAsnLeuAspHisSerHisAlaAsnTyrTyrPheCysAsnLeuSerIlePheAspProProProPheLysValThrLeuThrGlyGlyTyrLeuHisIleTyrGluSerGlnLeuCysCysGlnLeuLysPheTrpLeuProIleGlyCysAlaAlaPheValValValCysIleLeuGlyCysIleLeuIleCysTrpLeuThrLysLysLysTyrSerSerSerValHisAspProAsnGlyGluTyrMetPheMetArgAlaValAsnThrAlaLysLysSerArgLeuThrAspValThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746054",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316386.11:c.61G>T"
          },
          "RefSeq": {
            "hgvs": "NM_012092.4:c.61G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000319476.6:p.Glu21Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036224.1:p.Glu21Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005351",
      "geneNCBI_id": 29851,
      "geneSymbol": "ICOS",
      "hgvs": [
        "ENST00000316386.10:c.61G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319476.6:p.Glu21Ter",
        "hgvsWellDefined": "ENSP00000319476.6:p.Glu21_Leu199delinsIleAsnGlySerAlaAsnTyrGluMetPheIlePheHisAsnGlyGlyValGlnIleLeuCysLysTyrProAspIleValGlnGlnPheLysMetGlnLeuLeuLysGlyGlyGlnIleLeuCysAspLeuThrLysThrLysGlySerGlyAsnThrValSerIleLysSerLeuLysPheCysHisSerGlnLeuSerAsnAsnSerValSerPhePheLeuTyrAsnLeuAspHisSerHisAlaAsnTyrTyrPheCysAsnLeuSerIlePheAspProProProPheLysValThrLeuThrGlyGlyTyrLeuHisIleTyrGluSerGlnLeuCysCysGlnLeuLysPheTrpLeuProIleGlyCysAlaAlaPheValValValCysIleLeuGlyCysIleLeuIleCysTrpLeuThrLysLysLysTyrSerSerSerValHisAspProAsnGlyGluTyrMetPheMetArgAlaValAsnThrAlaLysLysSerArgLeuThrAspValThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96,
          "referenceAllele": "G",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005351",
      "geneNCBI_id": 29851,
      "geneSymbol": "ICOS",
      "hgvs": [
        "ENST00000435193.1:c.61G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415951.1:p.Glu21Ter",
        "hgvsWellDefined": "ENSP00000415951.1:p.Glu21_Met168delinsIleAsnGlySerAlaAsnTyrGluMetPheIlePheHisAsnGlyGlyValGlnIleLeuCysLysTyrProAspIleValGlnGlnPheLysMetGlnLeuLeuLysGlyGlyGlnIleLeuCysAspLeuThrLysThrLysGlySerGlyAsnThrValSerIleLysSerLeuLysPheCysHisSerGlnLeuSerAsnAsnSerValSerPhePheLeuTyrAsnLeuAspHisSerHisAlaAsnTyrTyrPheCysAsnLeuSerIlePheAspProProProPheLysValThrLeuThrGlyGlyTyrLeuHisIleTyrGluSerGlnLeuCysCysGlnLeuLysPheTrpLeuProIleGlyCysAlaAlaPheValValValCysIleLeuGlyCysIleLeuIleCysTrpLeuThrLysLysMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253607",
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005351",
      "geneNCBI_id": 29851,
      "geneSymbol": "ICOS",
      "hgvs": [
        "NM_012092.3:c.61G>T",
        "LRG_65t1:c.61G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036224.1:p.Glu21Ter",
        "hgvsWellDefined": "NP_036224.1:p.Glu21_Leu199delinsIleAsnGlySerAlaAsnTyrGluMetPheIlePheHisAsnGlyGlyValGlnIleLeuCysLysTyrProAspIleValGlnGlnPheLysMetGlnLeuLeuLysGlyGlyGlnIleLeuCysAspLeuThrLysThrLysGlySerGlyAsnThrValSerIleLysSerLeuLysPheCysHisSerGlnLeuSerAsnAsnSerValSerPhePheLeuTyrAsnLeuAspHisSerHisAlaAsnTyrTyrPheCysAsnLeuSerIlePheAspProProProPheLysValThrLeuThrGlyGlyTyrLeuHisIleTyrGluSerGlnLeuCysCysGlnLeuLysPheTrpLeuProIleGlyCysAlaAlaPheValValValCysIleLeuGlyCysIleLeuIleCysTrpLeuThrLysLysLysTyrSerSerSerValHisAspProAsnGlyGluTyrMetPheMetArgAlaValAsnThrAlaLysLysSerArgLeuThrAspValThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "referenceAllele": "G",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005351",
      "geneNCBI_id": 29851,
      "geneSymbol": "ICOS",
      "hgvs": [
        "XM_011511028.1:c.61G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509330.1:p.Glu21Ter",
        "hgvsWellDefined": "XP_011509330.1:p.Glu21_Ala203delinsIleAsnGlySerAlaAsnTyrGluMetPheIlePheHisAsnGlyGlyValGlnIleLeuCysLysTyrProAspIleValGlnGlnPheLysMetGlnLeuLeuLysGlyGlyGlnIleLeuCysAspLeuThrLysThrLysGlySerGlyAsnThrValSerIleLysSerLeuLysPheCysHisSerGlnLeuSerAsnAsnSerValSerPhePheLeuTyrAsnLeuAspHisSerHisAlaAsnTyrTyrPheCysAsnLeuSerIlePheAspProProProPheLysValThrLeuThrGlyGlyTyrLeuHisIleTyrGluSerGlnLeuCysCysGlnLeuLysPheTrpLeuProIleGlyCysAlaAlaPheValValValCysIleLeuGlyCysIleLeuIleCysTrpLeuThrLysLysLysTyrSerSerSerValHisAspProAsnGlyGluTyrMetPheMetArgAlaValAsnThrAlaLysLysSerArgLeuThrGlyLysGluAsnIleSerLysAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3100,
          "referenceAllele": "G",
          "start": 3099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005351",
      "geneNCBI_id": 29851,
      "geneSymbol": "ICOS",
      "hgvs": [
        "XM_011511029.1:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509331.1:p.Glu22Ter",
        "hgvsWellDefined": "XP_011509331.1:p.Glu22_Leu200delinsIleAsnGlySerAlaAsnTyrGluMetPheIlePheHisAsnGlyGlyValGlnIleLeuCysLysTyrProAspIleValGlnGlnPheLysMetGlnLeuLeuLysGlyGlyGlnIleLeuCysAspLeuThrLysThrLysGlySerGlyAsnThrValSerIleLysSerLeuLysPheCysHisSerGlnLeuSerAsnAsnSerValSerPhePheLeuTyrAsnLeuAspHisSerHisAlaAsnTyrTyrPheCysAsnLeuSerIlePheAspProProProPheLysValThrLeuThrGlyGlyTyrLeuHisIleTyrGluSerGlnLeuCysCysGlnLeuLysPheTrpLeuProIleGlyCysAlaAlaPheValValValCysIleLeuGlyCysIleLeuIleCysTrpLeuThrLysLysLysTyrSerSerSerValHisAspProAsnGlyGluTyrMetPheMetArgAlaValAsnThrAlaLysLysSerArgLeuThrAspValThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "G",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005351",
      "geneNCBI_id": 29851,
      "geneSymbol": "ICOS",
      "hgvs": [
        "XM_011511030.1:c.-27G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509332.1:n.-27G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 336,
          "referenceAllele": "G",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005351",
      "geneNCBI_id": 29851,
      "geneSymbol": "ICOS",
      "hgvs": [
        "XM_011511031.1:c.-27G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509333.1:n.-27G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078292"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253607",
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "referenceAllele": "G",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005351",
      "geneNCBI_id": 29851,
      "geneSymbol": "ICOS",
      "hgvs": [
        "NM_012092.4:c.61G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036224.1:p.Glu21Ter",
        "hgvsWellDefined": "NP_036224.1:p.Glu21_Leu199delinsIleAsnGlySerAlaAsnTyrGluMetPheIlePheHisAsnGlyGlyValGlnIleLeuCysLysTyrProAspIleValGlnGlnPheLysMetGlnLeuLeuLysGlyGlyGlnIleLeuCysAspLeuThrLysThrLysGlySerGlyAsnThrValSerIleLysSerLeuLysPheCysHisSerGlnLeuSerAsnAsnSerValSerPhePheLeuTyrAsnLeuAspHisSerHisAlaAsnTyrTyrPheCysAsnLeuSerIlePheAspProProProPheLysValThrLeuThrGlyGlyTyrLeuHisIleTyrGluSerGlnLeuCysCysGlnLeuLysPheTrpLeuProIleGlyCysAlaAlaPheValValValCysIleLeuGlyCysIleLeuIleCysTrpLeuThrLysLysLysTyrSerSerSerValHisAspProAsnGlyGluTyrMetPheMetArgAlaValAsnThrAlaLysLysSerArgLeuThrAspValThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316386.11:c.61G>T"
          },
          "RefSeq": {
            "hgvs": "NM_012092.4:c.61G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000319476.6:p.Glu21Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036224.1:p.Glu21Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}