{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346474602",
  "communityStandardTitle": [
    "NM_001029883.3(PCARE):c.3526C>T (p.Gln1176Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3189119[alleleid]",
        "alleleId": 3189119,
        "preferredName": "NM_001029883.3(PCARE):c.3526C>T (p.Gln1176Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3028813",
        "RCV": [
          "RCV003890678"
        ],
        "variationId": 3028813
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29293602G>A?assembly=hg19",
        "id": "chr2:g.29293602G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29070736G>A?assembly=hg38",
        "id": "chr2:g.29070736G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2465273048",
        "rs": 2465273048
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29070736-G-A?dataset=gnomad_r4",
        "id": "2-29070736-G-A",
        "variant": "2:29070736 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29070736,
          "referenceAllele": "G",
          "start": 29070735
        }
      ],
      "hgvs": [
        "NC_000002.12:g.29070736G>A",
        "CM000664.2:g.29070736G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29293602,
          "referenceAllele": "G",
          "start": 29293601
        }
      ],
      "hgvs": [
        "NC_000002.11:g.29293602G>A",
        "CM000664.1:g.29293602G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29147106,
          "referenceAllele": "G",
          "start": 29147105
        }
      ],
      "hgvs": [
        "NC_000002.10:g.29147106G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8526,
          "referenceAllele": "C",
          "start": 8525
        }
      ],
      "hgvs": [
        "NG_021427.1:g.8526C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003652"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3788,
          "referenceAllele": "C",
          "start": 3787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034383",
      "geneNCBI_id": 388939,
      "geneSymbol": "PCARE",
      "hgvs": [
        "ENST00000331664.6:c.3526C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332809.4:p.Gln1176Ter",
        "hgvsWellDefined": "ENSP00000332809.4:p.Gln1176_Ser1288delinsArgArgAlaAlaLeuCysAlaLeuAsnProLeuProPheLeuArgArgThrAlaSerAspArgGlnProGlyGlyArgProGlnProProThrLeuAspProThrSerThrSerTyrGluSerGlnLeuGlyGlnAsnSerSerSerGluGluSerProLysLysAspThrGluProGlySerSerProCysSerProGluLeuGlnGlyGlyThrArgArgAlaSerProProGluPheCysValLeuGlyHisGlyLeuGlnProGluProArgThrGlyHisIleGlnAspLysSerGlnProGluAlaGlnProGlnGlnGluGluValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331664.6:c.3526C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029883.3:c.3526C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332809.4:p.Gln1176Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001025054.1:p.Gln1176Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3526,
          "referenceAllele": "C",
          "start": 3525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034383",
      "geneNCBI_id": 388939,
      "geneSymbol": "PCARE",
      "hgvs": [
        "ENST00000331664.5:c.3526C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332809.4:p.Gln1176Ter",
        "hgvsWellDefined": "ENSP00000332809.4:p.Gln1176_Ser1288delinsArgArgAlaAlaLeuCysAlaLeuAsnProLeuProPheLeuArgArgThrAlaSerAspArgGlnProGlyGlyArgProGlnProProThrLeuAspProThrSerThrSerTyrGluSerGlnLeuGlyGlnAsnSerSerSerGluGluSerProLysLysAspThrGluProGlySerSerProCysSerProGluLeuGlnGlyGlyThrArgArgAlaSerProProGluPheCysValLeuGlyHisGlyLeuGlnProGluProArgThrGlyHisIleGlnAspLysSerGlnProGluAlaGlnProGlnGlnGluGluValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741826279",
      "coordinates": [
        {
          "allele": "T",
          "end": 3526,
          "referenceAllele": "C",
          "start": 3525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034383",
      "geneNCBI_id": 388939,
      "geneSymbol": "PCARE",
      "hgvs": [
        "NM_001029883.2:c.3526C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025054.1:p.Gln1176Ter",
        "hgvsWellDefined": "NP_001025054.1:p.Gln1176_Ser1288delinsArgArgAlaAlaLeuCysAlaLeuAsnProLeuProPheLeuArgArgThrAlaSerAspArgGlnProGlyGlyArgProGlnProProThrLeuAspProThrSerThrSerTyrGluSerGlnLeuGlyGlnAsnSerSerSerGluGluSerProLysLysAspThrGluProGlySerSerProCysSerProGluLeuGlnGlyGlyThrArgArgAlaSerProProGluPheCysValLeuGlyHisGlyLeuGlnProGluProArgThrGlyHisIleGlnAspLysSerGlnProGluAlaGlnProGlnGlnGluGluValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4103,
          "referenceAllele": "C",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034383",
      "geneNCBI_id": 388939,
      "geneSymbol": "PCARE",
      "hgvs": [
        "XM_011532826.1:c.3526C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531128.1:p.Gln1176Ter",
        "hgvsWellDefined": "XP_011531128.1:p.Gln1176_Ser1288delinsArgArgAlaAlaLeuCysAlaLeuAsnProLeuProPheLeuArgArgThrAlaSerAspArgGlnProGlyGlyArgProGlnProProThrLeuAspProThrSerThrSerTyrGluSerGlnLeuGlyGlnAsnSerSerSerGluGluSerProLysLysAspThrGluProGlySerSerProCysSerProGluLeuGlnGlyGlyThrArgArgAlaSerProProGluPheCysValLeuGlyHisGlyLeuGlnProGluProArgThrGlyHisIleGlnAspLysSerGlnProGluAlaGlnProGlnGlnGluGluValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 185,
          "endIntronDirection": "+",
          "endIntronOffset": 1569,
          "referenceAllele": "G",
          "start": 185,
          "startIntronDirection": "+",
          "startIntronOffset": 1568
        }
      ],
      "hgvs": [
        "XR_939901.1:n.185+1569G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 1581,
          "referenceAllele": "G",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 1580
        }
      ],
      "hgvs": [
        "XR_939902.1:n.173+1581G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741826279",
      "coordinates": [
        {
          "allele": "T",
          "end": 3788,
          "referenceAllele": "C",
          "start": 3787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034383",
      "geneNCBI_id": 388939,
      "geneSymbol": "PCARE",
      "hgvs": [
        "NM_001029883.3:c.3526C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025054.1:p.Gln1176Ter",
        "hgvsWellDefined": "NP_001025054.1:p.Gln1176_Ser1288delinsArgArgAlaAlaLeuCysAlaLeuAsnProLeuProPheLeuArgArgThrAlaSerAspArgGlnProGlyGlyArgProGlnProProThrLeuAspProThrSerThrSerTyrGluSerGlnLeuGlyGlnAsnSerSerSerGluGluSerProLysLysAspThrGluProGlySerSerProCysSerProGluLeuGlnGlyGlyThrArgArgAlaSerProProGluPheCysValLeuGlyHisGlyLeuGlnProGluProArgThrGlyHisIleGlnAspLysSerGlnProGluAlaGlnProGlnGlnGluGluValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331664.6:c.3526C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001029883.3:c.3526C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332809.4:p.Gln1176Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001025054.1:p.Gln1176Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}