{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8873559",
  "communityStandardTitle": [
    "NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5981344",
        "active": true,
        "id": "COSM5981344"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1148094[alleleid]",
        "alleleId": 1148094,
        "preferredName": "NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1149198",
        "RCV": [
          "RCV001489366",
          "RCV002264350"
        ],
        "variationId": 1149198
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-2951221-A-G",
        "id": "18-2951221-A-G",
        "variant": "18:2951221 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.2951221A>G?assembly=hg19",
        "id": "chr18:g.2951221A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.2951223A>G?assembly=hg38",
        "id": "chr18:g.2951223A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763550824",
        "rs": 763550824
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-2951221-A-G?dataset=gnomad_r2_1",
        "id": "18-2951221-A-G",
        "variant": "18:2951221 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-2951223-A-G?dataset=gnomad_r4",
        "id": "18-2951223-A-G",
        "variant": "18:2951223 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 2951223,
          "referenceAllele": "A",
          "start": 2951222
        }
      ],
      "hgvs": [
        "NC_000018.10:g.2951223A>G",
        "CM000680.2:g.2951223A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 2951221,
          "referenceAllele": "A",
          "start": 2951220
        }
      ],
      "hgvs": [
        "NC_000018.9:g.2951221A>G",
        "CM000680.1:g.2951221A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 2941221,
          "referenceAllele": "A",
          "start": 2941220
        }
      ],
      "hgvs": [
        "NC_000018.8:g.2941221A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 65725,
          "referenceAllele": "T",
          "start": 65724
        }
      ],
      "hgvs": [
        "NG_007507.1:g.65725T>C",
        "LRG_174:g.65725T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000627"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "referenceAllele": "T",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000261596.9:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261596.4:p.Leu141Ser",
        "hgvsWellDefined": "ENSP00000261596.4:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "referenceAllele": "T",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000584915.2:c.533T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463810.2:p.Leu178Ser",
        "hgvsWellDefined": "ENSP00000463810.2:p.Leu178Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697039.1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513061.1:p.Leu141Ser",
        "hgvsWellDefined": "ENSP00000513061.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "referenceAllele": "T",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697040.1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513062.1:p.Leu141Ser",
        "hgvsWellDefined": "ENSP00000513062.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "T",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697042.1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513064.1:p.Leu141Ser",
        "hgvsWellDefined": "ENSP00000513064.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "T",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697043.1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513065.1:p.Leu141Ser",
        "hgvsWellDefined": "ENSP00000513065.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000677752.1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504857.1:p.Leu141Ser",
        "hgvsWellDefined": "ENSP00000504857.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677752.1:c.422T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001375808.2:c.422T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504857.1:p.Leu141Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001362737.1:p.Leu141Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 661,
          "referenceAllele": "T",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000261596.8:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261596.4:p.Leu141Ser",
        "hgvsWellDefined": "ENSP00000261596.4:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "referenceAllele": "T",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000584294.1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463026.1:p.Leu141Ser",
        "hgvsWellDefined": "ENSP00000463026.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499278854",
      "coordinates": [
        {
          "allele": "C",
          "end": 661,
          "referenceAllele": "T",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_014646.2:c.422T>C",
        "LRG_174t1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055461.1:p.Leu141Ser",
        "hgvsWellDefined": "NP_055461.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 657,
          "referenceAllele": "T",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258177.3:c.533T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258234.1:p.Leu178Ser",
        "hgvsWellDefined": "XP_005258234.1:p.Leu178Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "referenceAllele": "T",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258178.2:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258235.1:p.Leu141Ser",
        "hgvsWellDefined": "XP_005258235.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 532,
          "referenceAllele": "T",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258179.3:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258236.1:p.Leu141Ser",
        "hgvsWellDefined": "XP_005258236.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "referenceAllele": "T",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XR_935074.1:n.551T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "referenceAllele": "T",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258177.4:c.533T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258234.1:p.Leu178Ser",
        "hgvsWellDefined": "XP_005258234.1:p.Leu178Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "referenceAllele": "T",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258178.3:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258235.1:p.Leu141Ser",
        "hgvsWellDefined": "XP_005258235.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 595,
          "referenceAllele": "T",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258179.5:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258236.1:p.Leu141Ser",
        "hgvsWellDefined": "XP_005258236.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "T",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026098.1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881587.1:p.Leu141Ser",
        "hgvsWellDefined": "XP_016881587.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 521,
          "referenceAllele": "T",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026099.1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881588.1:p.Leu141Ser",
        "hgvsWellDefined": "XP_016881588.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "referenceAllele": "T",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XR_935074.2:n.596T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828628798",
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "referenceAllele": "T",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Leu141Ser",
        "hgvsWellDefined": "NP_001362737.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629273",
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "referenceAllele": "T",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375809.1:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362738.1:p.Leu141Ser",
        "hgvsWellDefined": "NP_001362738.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828628798",
      "coordinates": [
        {
          "allele": "C",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.2:c.422T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Leu141Ser",
        "hgvsWellDefined": "NP_001362737.1:p.Leu141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677752.1:c.422T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001375808.2:c.422T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504857.1:p.Leu141Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001362737.1:p.Leu141Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}