{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253434",
  "communityStandardTitle": [
    "NM_018965.4(TREM2):c.558G>T (p.Lys186Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20253[alleleid]",
        "alleleId": 20253,
        "preferredName": "NM_018965.4(TREM2):c.558G>T (p.Lys186Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5214",
        "RCV": [
          "RCV000005524"
        ],
        "variationId": 5214
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.41126729C>A?assembly=hg19",
        "id": "chr6:g.41126729C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.41158991C>A?assembly=hg38",
        "id": "chr6:g.41158991C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937876",
        "rs": 28937876
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 41158991,
          "referenceAllele": "C",
          "start": 41158990
        }
      ],
      "hgvs": [
        "NC_000006.12:g.41158991C>A",
        "CM000668.2:g.41158991C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 41126729,
          "referenceAllele": "C",
          "start": 41126728
        }
      ],
      "hgvs": [
        "NC_000006.11:g.41126729C>A",
        "CM000668.1:g.41126729C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 41234707,
          "referenceAllele": "C",
          "start": 41234706
        }
      ],
      "hgvs": [
        "NC_000006.10:g.41234707C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9194,
          "referenceAllele": "G",
          "start": 9193
        }
      ],
      "hgvs": [
        "NG_011561.1:g.9194G>T",
        "LRG_631:g.9194G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001821"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000373113.8:c.558G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362205.3:p.Lys186Asn",
        "hgvsWellDefined": "ENSP00000362205.3:p.Lys186Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751159",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373113.8:c.558G>T"
          },
          "RefSeq": {
            "hgvs": "NM_018965.4:c.558G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362205.3:p.Lys186Asn"
          },
          "RefSeq": {
            "hgvs": "NP_061838.1:p.Lys186Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 210,
          "referenceAllele": "G",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000338469.3:c.483-211G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342651.4:n.483-211G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000373113.7:c.558G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362205.3:p.Lys186Asn",
        "hgvsWellDefined": "ENSP00000362205.3:p.Lys186Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "ENST00000373122.8:c.598G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362214.4:p.Asp200Tyr",
        "hgvsWellDefined": "ENSP00000362214.4:p.Asp200Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 210,
          "referenceAllele": "G",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_001271821.1:c.483-211G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258750.1:n.483-211G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104350",
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_018965.3:c.558G>T",
        "LRG_631t1:c.558G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061838.1:p.Lys186Asn",
        "hgvsWellDefined": "NP_061838.1:p.Lys186Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035976"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "G",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "XM_006715116.2:c.297G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715179.1:p.Lys99Asn",
        "hgvsWellDefined": "XP_006715179.1:p.Lys99Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "endIntronDirection": "+",
          "endIntronOffset": 3428,
          "referenceAllele": "C",
          "start": 222,
          "startIntronDirection": "+",
          "startIntronOffset": 3427
        }
      ],
      "hgvs": [
        "XR_926795.1:n.222+3428C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "endIntronDirection": "+",
          "endIntronOffset": 3428,
          "referenceAllele": "C",
          "start": 214,
          "startIntronDirection": "+",
          "startIntronOffset": 3427
        }
      ],
      "hgvs": [
        "XR_926796.1:n.214+3428C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 188,
          "endIntronDirection": "+",
          "endIntronOffset": 3428,
          "referenceAllele": "C",
          "start": 188,
          "startIntronDirection": "+",
          "startIntronOffset": 3427
        }
      ],
      "hgvs": [
        "XR_926797.1:n.188+3428C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "endIntronDirection": "+",
          "endIntronOffset": 3428,
          "referenceAllele": "C",
          "start": 517,
          "startIntronDirection": "+",
          "startIntronOffset": 3427
        }
      ],
      "hgvs": [
        "XR_926795.2:n.517+3428C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 3428,
          "referenceAllele": "C",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 3427
        }
      ],
      "hgvs": [
        "XR_926797.2:n.232+3428C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "endIntronDirection": "-",
          "endIntronOffset": 210,
          "referenceAllele": "G",
          "start": 516,
          "startIntronDirection": "-",
          "startIntronOffset": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_001271821.2:c.483-211G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258750.1:n.483-211G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104350",
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017761",
      "geneNCBI_id": 54209,
      "geneSymbol": "TREM2",
      "hgvs": [
        "NM_018965.4:c.558G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061838.1:p.Lys186Asn",
        "hgvsWellDefined": "NP_061838.1:p.Lys186Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698115",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373113.8:c.558G>T"
          },
          "RefSeq": {
            "hgvs": "NM_018965.4:c.558G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362205.3:p.Lys186Asn"
          },
          "RefSeq": {
            "hgvs": "NP_061838.1:p.Lys186Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}