{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2280788100",
  "communityStandardTitle": [
    "NM_001375808.2(LPIN2):c.2201C= (p.Ser734=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338807",
        "rs": 80338807
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 2922173,
          "referenceAllele": "G",
          "start": 2922172
        }
      ],
      "hgvs": [
        "NC_000018.10:g.2922173G=",
        "CM000680.2:g.2922173G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 2922171,
          "referenceAllele": "G",
          "start": 2922170
        }
      ],
      "hgvs": [
        "NC_000018.9:g.2922171G=",
        "CM000680.1:g.2922171G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 2912171,
          "referenceAllele": "G",
          "start": 2912170
        }
      ],
      "hgvs": [
        "NC_000018.8:g.2912171G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 94775,
          "referenceAllele": "C",
          "start": 94774
        }
      ],
      "hgvs": [
        "NG_007507.1:g.94775C=",
        "LRG_174:g.94775C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000627"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000261596.9:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261596.4:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2268,
          "referenceAllele": "C",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697039.1:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513061.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "C",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697040.1:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513062.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697041.1:c.896C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513063.1:p.Ser299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2268,
          "referenceAllele": "C",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000677752.1:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504857.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677752.1:c.2201C="
          },
          "RefSeq": {
            "hgvs": "NM_001375808.2:c.2201C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504857.1:p.Ser734="
          },
          "RefSeq": {
            "hgvs": "NP_001362737.1:p.Ser734="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2440,
          "referenceAllele": "C",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000261596.8:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261596.4:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829762380",
      "coordinates": [
        {
          "allele": "C",
          "end": 2440,
          "referenceAllele": "C",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_014646.2:c.2201C=",
        "LRG_174t1:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055461.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2436,
          "referenceAllele": "C",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258177.3:c.2312C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258234.1:p.Ser771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2439,
          "referenceAllele": "C",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258178.2:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258235.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2311,
          "referenceAllele": "C",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258179.3:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258236.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258177.4:c.2312C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258234.1:p.Ser771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2439,
          "referenceAllele": "C",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258178.3:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258235.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2374,
          "referenceAllele": "C",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258179.5:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258236.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2529,
          "referenceAllele": "C",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026098.1:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881587.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026099.1:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881588.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629107",
      "coordinates": [
        {
          "allele": "C",
          "end": 2439,
          "referenceAllele": "C",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.1:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629581",
      "coordinates": [
        {
          "allele": "C",
          "end": 2318,
          "referenceAllele": "C",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375809.1:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001362738.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629107",
      "coordinates": [
        {
          "allele": "C",
          "end": 2268,
          "referenceAllele": "C",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.2:c.2201C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Ser734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677752.1:c.2201C="
          },
          "RefSeq": {
            "hgvs": "NM_001375808.2:c.2201C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504857.1:p.Ser734="
          },
          "RefSeq": {
            "hgvs": "NP_001362737.1:p.Ser734="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}