{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8873078",
  "communityStandardTitle": [
    "NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1480292",
        "active": true,
        "id": "COSM1480292"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=232049[alleleid]",
        "alleleId": 232049,
        "preferredName": "NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/234335",
        "RCV": [
          "RCV000213383",
          "RCV001087742",
          "RCV002262817"
        ],
        "variationId": 234335
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-2929124-C-T",
        "id": "18-2929124-C-T",
        "variant": "18:2929124 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.2929124C>T?assembly=hg19",
        "id": "chr18:g.2929124C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.2929126C>T?assembly=hg38",
        "id": "chr18:g.2929126C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201325845",
        "rs": 201325845
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-2929124-C-T?dataset=gnomad_r2_1",
        "id": "18-2929124-C-T",
        "variant": "18:2929124 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-2929126-C-T?dataset=gnomad_r3",
        "id": "18-2929126-C-T",
        "variant": "18:2929126 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-2929126-C-T?dataset=gnomad_r4",
        "id": "18-2929126-C-T",
        "variant": "18:2929126 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 2929126,
          "referenceAllele": "C",
          "start": 2929125
        }
      ],
      "hgvs": [
        "NC_000018.10:g.2929126C>T",
        "CM000680.2:g.2929126C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 2929124,
          "referenceAllele": "C",
          "start": 2929123
        }
      ],
      "hgvs": [
        "NC_000018.9:g.2929124C>T",
        "CM000680.1:g.2929124C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 2919124,
          "referenceAllele": "C",
          "start": 2919123
        }
      ],
      "hgvs": [
        "NC_000018.8:g.2919124C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87822,
          "referenceAllele": "G",
          "start": 87821
        }
      ],
      "hgvs": [
        "NG_007507.1:g.87822G>A",
        "LRG_174:g.87822G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000627"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "referenceAllele": "G",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000261596.9:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261596.4:p.Glu497Lys",
        "hgvsWellDefined": "ENSP00000261596.4:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "referenceAllele": "G",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697039.1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513061.1:p.Glu497Lys",
        "hgvsWellDefined": "ENSP00000513061.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697040.1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513062.1:p.Glu497Lys",
        "hgvsWellDefined": "ENSP00000513062.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "referenceAllele": "G",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697041.1:c.184G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513063.1:p.Glu62Lys",
        "hgvsWellDefined": "ENSP00000513063.1:p.Glu62Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "G",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000697042.1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513064.1:p.Glu497Lys",
        "hgvsWellDefined": "ENSP00000513064.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "referenceAllele": "G",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000677752.1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504857.1:p.Glu497Lys",
        "hgvsWellDefined": "ENSP00000504857.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677752.1:c.1489G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001375808.2:c.1489G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504857.1:p.Glu497Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001362737.1:p.Glu497Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "G",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "ENST00000261596.8:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261596.4:p.Glu497Lys",
        "hgvsWellDefined": "ENSP00000261596.4:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645428488",
      "coordinates": [
        {
          "allele": "A",
          "end": 1728,
          "referenceAllele": "G",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_014646.2:c.1489G>A",
        "LRG_174t1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055461.1:p.Glu497Lys",
        "hgvsWellDefined": "NP_055461.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258177.3:c.1600G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258234.1:p.Glu534Lys",
        "hgvsWellDefined": "XP_005258234.1:p.Glu534Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1727,
          "referenceAllele": "G",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258178.2:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258235.1:p.Glu497Lys",
        "hgvsWellDefined": "XP_005258235.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1599,
          "referenceAllele": "G",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258179.3:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258236.1:p.Glu497Lys",
        "hgvsWellDefined": "XP_005258236.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XR_935074.1:n.1618G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "referenceAllele": "G",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258177.4:c.1600G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258234.1:p.Glu534Lys",
        "hgvsWellDefined": "XP_005258234.1:p.Glu534Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1727,
          "referenceAllele": "G",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258178.3:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258235.1:p.Glu497Lys",
        "hgvsWellDefined": "XP_005258235.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_005258179.5:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258236.1:p.Glu497Lys",
        "hgvsWellDefined": "XP_005258236.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1817,
          "referenceAllele": "G",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026098.1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881587.1:p.Glu497Lys",
        "hgvsWellDefined": "XP_016881587.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1588,
          "referenceAllele": "G",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XM_017026099.1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881588.1:p.Glu497Lys",
        "hgvsWellDefined": "XP_016881588.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1663,
          "referenceAllele": "G",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "XR_935074.2:n.1663G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828628986",
      "coordinates": [
        {
          "allele": "A",
          "end": 1727,
          "referenceAllele": "G",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Glu497Lys",
        "hgvsWellDefined": "NP_001362737.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828629461",
      "coordinates": [
        {
          "allele": "A",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375809.1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362738.1:p.Glu497Lys",
        "hgvsWellDefined": "NP_001362738.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828628986",
      "coordinates": [
        {
          "allele": "A",
          "end": 1556,
          "referenceAllele": "G",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014450",
      "geneNCBI_id": 9663,
      "geneSymbol": "LPIN2",
      "hgvs": [
        "NM_001375808.2:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362737.1:p.Glu497Lys",
        "hgvsWellDefined": "NP_001362737.1:p.Glu497Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677752.1:c.1489G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001375808.2:c.1489G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000504857.1:p.Glu497Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001362737.1:p.Glu497Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}