{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA411527654", "communityStandardTitle": [ "NM_003560.4(PLA2G6):c.1612C>G (p.Arg538Gly)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.38516896G>C?assembly=hg19", "id": "chr22:g.38516896G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.38120889G>C?assembly=hg38", "id": "chr22:g.38120889G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/370691849", "rs": 370691849 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-38120889-G-C?dataset=gnomad_r4", "id": "22-38120889-G-C", "variant": "22:38120889 G / C" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 38120889, "referenceAllele": "G", "start": 38120888 } ], "hgvs": [ "NC_000022.11:g.38120889G>C", "CM000684.2:g.38120889G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 38516896, "referenceAllele": "G", "start": 38516895 } ], "hgvs": [ "NC_000022.10:g.38516896G>C", "CM000684.1:g.38516896G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "C", "end": 36846842, "referenceAllele": "G", "start": 36846841 } ], "hgvs": [ "NC_000022.9:g.36846842G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "G", "end": 89802, "referenceAllele": "C", "start": 89801 } ], "hgvs": [ "NG_007094.2:g.89802C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000475" }, { "coordinates": [ { "allele": "G", "end": 98890, "referenceAllele": "C", "start": 98889 } ], "hgvs": [ "NG_007094.3:g.98890C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS733306" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000332509.8:c.1612C>G" ], "proteinEffect": { "hgvs": "ENSP00000333142.3:p.Arg538Gly", "hgvsWellDefined": "ENSP00000333142.3:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS747235", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000332509.8:c.1612C>G" }, "RefSeq": { "hgvs": "NM_003560.4:c.1612C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000333142.3:p.Arg538Gly" }, "RefSeq": { "hgvs": "NP_003551.2:p.Arg538Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000427114.6:c.916C>G" ], "proteinEffect": { "hgvs": "ENSP00000407743.2:p.Arg306Gly", "hgvsWellDefined": "ENSP00000407743.2:p.Arg306Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS755160" }, { "coordinates": [ { "allele": "G", "end": 1370, "referenceAllele": "C", "start": 1369 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000436218.6:c.*810C>G" ], "proteinEffect": { "hgvs": "ENSP00000401242.1:n.*810C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS755604" }, { "coordinates": [ { "allele": "G", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000655142.1:c.*470C>G" ], "proteinEffect": { "hgvs": "ENSP00000499715.1:n.*470C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS772487" }, { "coordinates": [ { "allele": "G", "end": 1979, "referenceAllele": "C", "start": 1978 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000660610.1:c.1612C>G" ], "proteinEffect": { "hgvs": "ENSP00000499555.1:p.Arg538Gly", "hgvsWellDefined": "ENSP00000499555.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS772698" }, { "coordinates": [ { "allele": "G", "end": 1696, "referenceAllele": "C", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000663895.1:c.1612C>G" ], "proteinEffect": { "hgvs": "ENSP00000499712.1:p.Arg538Gly", "hgvsWellDefined": "ENSP00000499712.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS772835" }, { "coordinates": [ { "allele": "G", "end": 1571, "referenceAllele": "C", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000664587.1:c.1474C>G" ], "proteinEffect": { "hgvs": "ENSP00000499394.1:p.Arg492Gly", "hgvsWellDefined": "ENSP00000499394.1:p.Arg492Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS772864" }, { "coordinates": [ { "allele": "G", "end": 1664, "referenceAllele": "C", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000665987.1:c.*1351C>G" ], "proteinEffect": { "hgvs": "ENSP00000499423.1:n.*1351C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS772926" }, { "coordinates": [ { "allele": "G", "end": 1674, "referenceAllele": "C", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000667521.1:c.1612C>G" ], "proteinEffect": { "hgvs": "ENSP00000499665.1:p.Arg538Gly", "hgvsWellDefined": "ENSP00000499665.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS772984" }, { "coordinates": [ { "allele": "G", "end": 1580, "referenceAllele": "C", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000668208.1:n.1580C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773012" }, { "coordinates": [ { "allele": "G", "end": 1716, "referenceAllele": "C", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000668499.1:c.*1334C>G" ], "proteinEffect": { "hgvs": "ENSP00000499626.1:n.*1334C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773025" }, { "coordinates": [ { "allele": "G", "end": 1539, "referenceAllele": "C", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000668949.1:c.1450C>G" ], "proteinEffect": { "hgvs": "ENSP00000499711.1:p.Arg484Gly", "hgvsWellDefined": "ENSP00000499711.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS773045" }, { "coordinates": [ { "allele": "G", "end": 1544, "referenceAllele": "C", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000671093.1:n.1544C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773124" }, { "coordinates": [ { "allele": "G", "end": 1663, "referenceAllele": "C", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000673413.1:c.*1281C>G" ], "proteinEffect": { "hgvs": "ENSP00000500600.1:n.*1281C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773671" }, { "coordinates": [ { "allele": "G", "end": 1796, "referenceAllele": "C", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000332509.7:c.1612C>G" ], "proteinEffect": { "hgvs": "ENSP00000333142.3:p.Arg538Gly", "hgvsWellDefined": "ENSP00000333142.3:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS259571" }, { "coordinates": [ { "allele": "G", "end": 1586, "referenceAllele": "C", "start": 1585 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000335539.7:c.1450C>G" ], "proteinEffect": { "hgvs": "ENSP00000335149.3:p.Arg484Gly", "hgvsWellDefined": "ENSP00000335149.3:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS260146" }, { "coordinates": [ { "allele": "G", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000402064.5:c.1450C>G" ], "proteinEffect": { "hgvs": "ENSP00000386100.1:p.Arg484Gly", "hgvsWellDefined": "ENSP00000386100.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS279399" }, { "coordinates": [ { "allele": "G", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000448094.5:c.*217C>G" ], "proteinEffect": { "hgvs": "ENSP00000407106.1:n.*217C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS299571" }, { "coordinates": [ { "allele": "G", "end": 257, "referenceAllele": "C", "start": 256 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000454670.1:c.257C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS302669" }, { "coordinates": [ { "allele": "G", "end": 623, "referenceAllele": "C", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000491986.1:n.623C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS329469" }, { "coordinates": [ { "allele": "G", "end": 152, "referenceAllele": "C", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "ENST00000496409.1:n.152C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS332881" }, { "coordinates": [ { "allele": "G", "end": 1586, "referenceAllele": "C", "start": 1585 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.1:c.1450C>G" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Arg484Gly", "hgvsWellDefined": "NP_001004426.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS007462" }, { "coordinates": [ { "allele": "G", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.1:c.1450C>G" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Arg484Gly", "hgvsWellDefined": "NP_001186491.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS017130" }, { "@id": "http://reg.genome.network/allele/PA3088616179", "coordinates": [ { "allele": "G", "end": 1748, "referenceAllele": "C", "start": 1747 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.2:c.1612C>G" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Arg538Gly", "hgvsWellDefined": "NP_003551.2:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS028794" }, { "coordinates": [ { "allele": "G", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261764.1:c.1612C>G" ], "proteinEffect": { "hgvs": "XP_005261821.1:p.Arg538Gly", "hgvsWellDefined": "XP_005261821.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS063212" }, { "coordinates": [ { "allele": "G", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261765.1:c.1612C>G" ], "proteinEffect": { "hgvs": "XP_005261822.1:p.Arg538Gly", "hgvsWellDefined": "XP_005261822.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS063213" }, { "coordinates": [ { "allele": "G", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261766.1:c.1612C>G" ], "proteinEffect": { "hgvs": "XP_005261823.1:p.Arg538Gly", "hgvsWellDefined": "XP_005261823.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS063214" }, { "coordinates": [ { "allele": "G", "end": 1734, "referenceAllele": "C", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_006724332.2:c.1612C>G" ], "proteinEffect": { "hgvs": "XP_006724395.1:p.Arg538Gly", "hgvsWellDefined": "XP_006724395.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS075479" }, { "coordinates": [ { "allele": "G", "end": 1599, "referenceAllele": "C", "start": 1598 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530422.1:c.1507C>G" ], "proteinEffect": { "hgvs": "XP_011528724.1:p.Arg503Gly", "hgvsWellDefined": "XP_011528724.1:p.Arg503Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097479" }, { "coordinates": [ { "allele": "G", "end": 1835, "referenceAllele": "C", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530423.1:c.1078C>G" ], "proteinEffect": { "hgvs": "XP_011528725.1:p.Arg360Gly", "hgvsWellDefined": "XP_011528725.1:p.Arg360Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097480" }, { "coordinates": [ { "allele": "G", "end": 1959, "referenceAllele": "C", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530424.1:c.1078C>G" ], "proteinEffect": { "hgvs": "XP_011528726.1:p.Arg360Gly", "hgvsWellDefined": "XP_011528726.1:p.Arg360Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097481" }, { "coordinates": [ { "allele": "G", "end": 1659, "referenceAllele": "C", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530425.1:c.1078C>G" ], "proteinEffect": { "hgvs": "XP_011528727.1:p.Arg360Gly", "hgvsWellDefined": "XP_011528727.1:p.Arg360Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097482" }, { "coordinates": [ { "allele": "G", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530426.1:c.1612C>G" ], "proteinEffect": { "hgvs": "XP_011528728.1:p.Arg538Gly", "hgvsWellDefined": "XP_011528728.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097483" }, { "coordinates": [ { "allele": "G", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244390.1:n.1720C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS116743" }, { "coordinates": [ { "allele": "G", "end": 1773, "referenceAllele": "C", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244392.1:n.1773C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS116744" }, { "coordinates": [ { "allele": "G", "end": 1772, "referenceAllele": "C", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_430411.1:n.1772C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS118692" }, { "coordinates": [ { "allele": "G", "end": 1825, "referenceAllele": "C", "start": 1824 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_430412.1:n.1825C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS118693" }, { "coordinates": [ { "allele": "G", "end": 1720, "referenceAllele": "C", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937937.1:n.1720C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132696" }, { "coordinates": [ { "allele": "G", "end": 1806, "referenceAllele": "C", "start": 1805 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937938.1:n.1806C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132697" }, { "coordinates": [ { "allele": "G", "end": 1772, "referenceAllele": "C", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937939.1:n.1772C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132698" }, { "coordinates": [ { "allele": "G", "end": 1662, "referenceAllele": "C", "start": 1661 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.2:c.1450C>G" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Arg484Gly", "hgvsWellDefined": "NP_001004426.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS510928" }, { "coordinates": [ { "allele": "G", "end": 1621, "referenceAllele": "C", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.2:c.1450C>G" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Arg484Gly", "hgvsWellDefined": "NP_001186491.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511837" }, { "coordinates": [ { "allele": "G", "end": 1820, "referenceAllele": "C", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349864.1:c.1612C>G" ], "proteinEffect": { "hgvs": "NP_001336793.1:p.Arg538Gly", "hgvsWellDefined": "NP_001336793.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS518982" }, { "coordinates": [ { "allele": "G", "end": 1658, "referenceAllele": "C", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349865.1:c.1450C>G" ], "proteinEffect": { "hgvs": "NP_001336794.1:p.Arg484Gly", "hgvsWellDefined": "NP_001336794.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS518983" }, { "coordinates": [ { "allele": "G", "end": 1617, "referenceAllele": "C", "start": 1616 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349866.1:c.1450C>G" ], "proteinEffect": { "hgvs": "NP_001336795.1:p.Arg484Gly", "hgvsWellDefined": "NP_001336795.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS518984" }, { "coordinates": [ { "allele": "G", "end": 1914, "referenceAllele": "C", "start": 1913 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349867.1:c.1078C>G" ], "proteinEffect": { "hgvs": "NP_001336796.1:p.Arg360Gly", "hgvsWellDefined": "NP_001336796.1:p.Arg360Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS518985" }, { "coordinates": [ { "allele": "G", "end": 1591, "referenceAllele": "C", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349868.1:c.934C>G" ], "proteinEffect": { "hgvs": "NP_001336797.1:p.Arg312Gly", "hgvsWellDefined": "NP_001336797.1:p.Arg312Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS518986" }, { "coordinates": [ { "allele": "G", "end": 1752, "referenceAllele": "C", "start": 1751 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349869.1:c.916C>G" ], "proteinEffect": { "hgvs": "NP_001336798.1:p.Arg306Gly", "hgvsWellDefined": "NP_001336798.1:p.Arg306Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS518987" }, { "@id": "http://reg.genome.network/allele/PA3088616179", "coordinates": [ { "allele": "G", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.3:c.1612C>G" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Arg538Gly", "hgvsWellDefined": "NP_003551.2:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS525111" }, { "coordinates": [ { "allele": "G", "end": 1704, "referenceAllele": "C", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261764.3:c.1612C>G" ], "proteinEffect": { "hgvs": "XP_005261821.1:p.Arg538Gly", "hgvsWellDefined": "XP_005261821.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS535363" }, { "coordinates": [ { "allele": "G", "end": 1700, "referenceAllele": "C", "start": 1699 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_005261765.2:c.1612C>G" ], "proteinEffect": { "hgvs": "XP_005261822.1:p.Arg538Gly", "hgvsWellDefined": "XP_005261822.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS535364" }, { "coordinates": [ { "allele": "G", "end": 1725, "referenceAllele": "C", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_006724332.4:c.1612C>G" ], "proteinEffect": { "hgvs": "XP_006724395.1:p.Arg538Gly", "hgvsWellDefined": "XP_006724395.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS540956" }, { "coordinates": [ { "allele": "G", "end": 1704, "referenceAllele": "C", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_011530426.3:c.1612C>G" ], "proteinEffect": { "hgvs": "XP_011528728.1:p.Arg538Gly", "hgvsWellDefined": "XP_011528728.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549971" }, { "coordinates": [ { "allele": "G", "end": 1797, "referenceAllele": "C", "start": 1796 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028983.1:c.916C>G" ], "proteinEffect": { "hgvs": "XP_016884472.1:p.Arg306Gly", "hgvsWellDefined": "XP_016884472.1:p.Arg306Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS578612" }, { "coordinates": [ { "allele": "G", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_017028986.2:c.1450C>G" ], "proteinEffect": { "hgvs": "XP_016884475.1:p.Arg484Gly", "hgvsWellDefined": "XP_016884475.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS578613" }, { "coordinates": [ { "allele": "G", "end": 1894, "referenceAllele": "C", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452280.1:c.1078C>G" ], "proteinEffect": { "hgvs": "XP_024308048.1:p.Arg360Gly", "hgvsWellDefined": "XP_024308048.1:p.Arg360Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS585777" }, { "coordinates": [ { "allele": "G", "end": 1821, "referenceAllele": "C", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452281.1:c.1078C>G" ], "proteinEffect": { "hgvs": "XP_024308049.1:p.Arg360Gly", "hgvsWellDefined": "XP_024308049.1:p.Arg360Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS585778" }, { "coordinates": [ { "allele": "G", "end": 1584, "referenceAllele": "C", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452282.1:c.1078C>G" ], "proteinEffect": { "hgvs": "XP_024308050.1:p.Arg360Gly", "hgvsWellDefined": "XP_024308050.1:p.Arg360Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS585779" }, { "coordinates": [ { "allele": "G", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452283.1:c.934C>G" ], "proteinEffect": { "hgvs": "XP_024308051.1:p.Arg312Gly", "hgvsWellDefined": "XP_024308051.1:p.Arg312Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS585780" }, { "coordinates": [ { "allele": "G", "end": 1728, "referenceAllele": "C", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452284.1:c.916C>G" ], "proteinEffect": { "hgvs": "XP_024308052.1:p.Arg306Gly", "hgvsWellDefined": "XP_024308052.1:p.Arg306Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS585781" }, { "coordinates": [ { "allele": "G", "end": 1659, "referenceAllele": "C", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XM_024452285.1:c.916C>G" ], "proteinEffect": { "hgvs": "XP_024308053.1:p.Arg306Gly", "hgvsWellDefined": "XP_024308053.1:p.Arg306Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS585782" }, { "coordinates": [ { "allele": "G", "end": 1704, "referenceAllele": "C", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755325.2:n.1704C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601102" }, { "coordinates": [ { "allele": "G", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755327.2:n.1790C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601103" }, { "coordinates": [ { "allele": "G", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_001755328.2:n.1756C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601104" }, { "coordinates": [ { "allele": "G", "end": 1704, "referenceAllele": "C", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_244390.3:n.1704C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS606091" }, { "coordinates": [ { "allele": "G", "end": 1790, "referenceAllele": "C", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937938.3:n.1790C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611758" }, { "coordinates": [ { "allele": "G", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "XR_937939.3:n.1756C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611759" }, { "coordinates": [ { "allele": "G", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001199562.3:c.1450C>G" ], "proteinEffect": { "hgvs": "NP_001186491.1:p.Arg484Gly", "hgvsWellDefined": "NP_001186491.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS679576" }, { "coordinates": [ { "allele": "G", "end": 1820, "referenceAllele": "C", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349864.2:c.1612C>G" ], "proteinEffect": { "hgvs": "NP_001336793.1:p.Arg538Gly", "hgvsWellDefined": "NP_001336793.1:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS688118" }, { "coordinates": [ { "allele": "G", "end": 1658, "referenceAllele": "C", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349865.2:c.1450C>G" ], "proteinEffect": { "hgvs": "NP_001336794.1:p.Arg484Gly", "hgvsWellDefined": "NP_001336794.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS688119" }, { "coordinates": [ { "allele": "G", "end": 1538, "referenceAllele": "C", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349866.2:c.1450C>G" ], "proteinEffect": { "hgvs": "NP_001336795.1:p.Arg484Gly", "hgvsWellDefined": "NP_001336795.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS688120" }, { "coordinates": [ { "allele": "G", "end": 1835, "referenceAllele": "C", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349867.2:c.1078C>G" ], "proteinEffect": { "hgvs": "NP_001336796.1:p.Arg360Gly", "hgvsWellDefined": "NP_001336796.1:p.Arg360Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS688121" }, { "coordinates": [ { "allele": "G", "end": 1512, "referenceAllele": "C", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349868.2:c.934C>G" ], "proteinEffect": { "hgvs": "NP_001336797.1:p.Arg312Gly", "hgvsWellDefined": "NP_001336797.1:p.Arg312Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS688122" }, { "coordinates": [ { "allele": "G", "end": 1673, "referenceAllele": "C", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001349869.2:c.916C>G" ], "proteinEffect": { "hgvs": "NP_001336798.1:p.Arg306Gly", "hgvsWellDefined": "NP_001336798.1:p.Arg306Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS688123" }, { "@id": "http://reg.genome.network/allele/PA3088616179", "coordinates": [ { "allele": "G", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_003560.4:c.1612C>G" ], "proteinEffect": { "hgvs": "NP_003551.2:p.Arg538Gly", "hgvsWellDefined": "NP_003551.2:p.Arg538Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS695893", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000332509.8:c.1612C>G" }, "RefSeq": { "hgvs": "NM_003560.4:c.1612C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000333142.3:p.Arg538Gly" }, "RefSeq": { "hgvs": "NP_003551.2:p.Arg538Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1662, "referenceAllele": "C", "start": 1661 } ], "gene": "http://reg.genome.network/gene/GN009039", "geneNCBI_id": 8398, "geneSymbol": "PLA2G6", "hgvs": [ "NM_001004426.3:c.1450C>G" ], "proteinEffect": { "hgvs": "NP_001004426.1:p.Arg484Gly", "hgvsWellDefined": "NP_001004426.1:p.Arg484Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711038" } ], "type": "nucleotide" }