{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA275762",
  "communityStandardTitle": [
    "NM_000030.3(AGXT):c.922C>T (p.Gln308Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200582[alleleid]",
        "alleleId": 200582,
        "preferredName": "NM_000030.3(AGXT):c.922C>T (p.Gln308Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204138",
        "RCV": [
          "RCV000186345"
        ],
        "variationId": 204138
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.241817029C>T?assembly=hg19",
        "id": "chr2:g.241817029C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.240877612C>T?assembly=hg38",
        "id": "chr2:g.240877612C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180177296",
        "rs": 180177296
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-240877612-C-T?dataset=gnomad_r4",
        "id": "2-240877612-C-T",
        "variant": "2:240877612 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 240877612,
          "referenceAllele": "C",
          "start": 240877611
        }
      ],
      "hgvs": [
        "NC_000002.12:g.240877612C>T",
        "CM000664.2:g.240877612C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 241817029,
          "referenceAllele": "C",
          "start": 241817028
        }
      ],
      "hgvs": [
        "NC_000002.11:g.241817029C>T",
        "CM000664.1:g.241817029C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 241465702,
          "referenceAllele": "C",
          "start": 241465701
        }
      ],
      "hgvs": [
        "NC_000002.10:g.241465702C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13868,
          "referenceAllele": "C",
          "start": 13867
        }
      ],
      "hgvs": [
        "NG_008005.1:g.13868C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000769"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.4:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Gln308Ter",
        "hgvsWellDefined": "ENSP00000302620.3:p.Gln308_Leu392delinsLeuPheValLysAspProAlaLeuArgLeuProThrValThrThrValAlaValProAlaGlyTyrAspTrpArgAspIleValSerTyrValIleAspHisPheAspIleGluIleMetGlyGlyLeuGlyProSerThrGlyLysValLeuArgIleGlyLeuLeuGlyCysAsnAlaThrArgGluAsnValAspArgValThrGluAlaLeuArgAlaAlaLeuGlnHisCysProLysLysLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.922C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.922C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Gln308Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Gln308Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "referenceAllele": "C",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000307503.3:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302620.3:p.Gln308Ter",
        "hgvsWellDefined": "ENSP00000302620.3:p.Gln308_Leu392delinsLeuPheValLysAspProAlaLeuArgLeuProThrValThrThrValAlaValProAlaGlyTyrAspTrpArgAspIleValSerTyrValIleAspHisPheAspIleGluIleMetGlyGlyLeuGlyProSerThrGlyLysValLeuArgIleGlyLeuLeuGlyCysAsnAlaThrArgGluAsnValAspArgValThrGluAlaLeuArgAlaAlaLeuGlnHisCysProLysLysLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "ENST00000470255.1:n.700C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA275763",
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.2:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Gln308Ter",
        "hgvsWellDefined": "NP_000021.1:p.Gln308_Leu392delinsLeuPheValLysAspProAlaLeuArgLeuProThrValThrThrValAlaValProAlaGlyTyrAspTrpArgAspIleValSerTyrValIleAspHisPheAspIleGluIleMetGlyGlyLeuGlyProSerThrGlyLysValLeuArgIleGlyLeuLeuGlyCysAsnAlaThrArgGluAsnValAspArgValThrGluAlaLeuArgAlaAlaLeuGlnHisCysProLysLysLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA275763",
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000341",
      "geneNCBI_id": 189,
      "geneSymbol": "AGXT",
      "hgvs": [
        "NM_000030.3:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000021.1:p.Gln308Ter",
        "hgvsWellDefined": "NP_000021.1:p.Gln308_Leu392delinsLeuPheValLysAspProAlaLeuArgLeuProThrValThrThrValAlaValProAlaGlyTyrAspTrpArgAspIleValSerTyrValIleAspHisPheAspIleGluIleMetGlyGlyLeuGlyProSerThrGlyLysValLeuArgIleGlyLeuLeuGlyCysAsnAlaThrArgGluAsnValAspArgValThrGluAlaLeuArgAlaAlaLeuGlnHisCysProLysLysLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307503.4:c.922C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000030.3:c.922C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302620.3:p.Gln308Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000021.1:p.Gln308Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}