{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA421417318", "communityStandardTitle": [ "NM_001377299.1(NDUFS2):c.1116G>A (p.Lys372=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1858919[alleleid]", "alleleId": 1858919, "preferredName": "NM_001377299.1(NDUFS2):c.1116G>A (p.Lys372=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1801727", "RCV": [ "RCV002463884" ], "variationId": 1801727 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.161182270G>A?assembly=hg19", "id": "chr1:g.161182270G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2525722180", "rs": 2525722180 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 161212480, "referenceAllele": "G", "start": 161212479 } ], "hgvs": [ "NC_000001.11:g.161212480G>A", "CM000663.2:g.161212480G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 161182270, "referenceAllele": "G", "start": 161182269 } ], "hgvs": [ "NC_000001.10:g.161182270G>A", "CM000663.1:g.161182270G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 159448894, "referenceAllele": "G", "start": 159448893 } ], "hgvs": [ "NC_000001.9:g.159448894G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 18166, "referenceAllele": "G", "start": 18165 } ], "hgvs": [ "NG_013352.1:g.18166G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002804" }, { "coordinates": [ { "allele": "A", "end": 2184, "referenceAllele": "G", "start": 2183 } ], "hgvs": [ "NG_029043.1:g.2184G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004222" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1355, "referenceAllele": "G", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000392179.5:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000376018.4:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS752972" }, { "coordinates": [ { "allele": "A", "end": 767, "referenceAllele": "G", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000465923.6:n.767G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756860" }, { "coordinates": [ { "allele": "A", "end": 1644, "referenceAllele": "G", "start": 1643 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000467295.6:n.1644G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756898" }, { "coordinates": [ { "allele": "A", "end": 943, "referenceAllele": "G", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000468828.6:n.943G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756950" }, { "coordinates": [ { "allele": "A", "end": 1346, "referenceAllele": "G", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000480762.6:n.1346G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757346" }, { "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000483804.6:n.628G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757454" }, { "coordinates": [ { "allele": "A", "end": 1971, "referenceAllele": "G", "start": 1970 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000493849.6:n.1971G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757752" }, { "coordinates": [ { "allele": "A", "end": 1855, "referenceAllele": "G", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000496553.6:n.1855G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757836" }, { "coordinates": [ { "allele": "A", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000676535.1:n.1598G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776213" }, { "coordinates": [ { "allele": "A", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000676583.1:c.*491G>A" ], "proteinEffect": { "hgvs": "ENSP00000503681.1:n.*491G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776261" }, { "coordinates": [ { "allele": "A", "end": 1282, "referenceAllele": "G", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000676600.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000503989.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776278" }, { "coordinates": [ { "allele": "A", "end": 1872, "referenceAllele": "G", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000676653.1:n.1872G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776329" }, { "coordinates": [ { "allele": "A", "end": 1545, "referenceAllele": "G", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000676726.1:n.1545G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776401" }, { "coordinates": [ { "allele": "A", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000676770.1:n.1982G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776444" }, { "coordinates": [ { "allele": "A", "end": 832, "referenceAllele": "G", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000676795.1:c.*698G>A" ], "proteinEffect": { "hgvs": "ENSP00000504650.1:n.*698G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776467" }, { "coordinates": [ { "allele": "A", "end": 1655, "referenceAllele": "G", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000676871.1:n.1655G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776543" }, { "coordinates": [ { "allele": "A", "end": 1135, "referenceAllele": "G", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000676972.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000503117.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776642", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676972.1:c.1116G>A" }, "RefSeq": { "hgvs": "NM_001377299.1:c.1116G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503117.1:p.Lys372=" }, "RefSeq": { "hgvs": "NP_001364228.1:p.Lys372=" } } } }, { "coordinates": [ { "allele": "A", "end": 1706, "endIntronDirection": "-", "endIntronOffset": 899, "referenceAllele": "G", "start": 1706, "startIntronDirection": "-", "startIntronOffset": 900 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000676991.1:n.1707-900G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776660" }, { "coordinates": [ { "allele": "A", "end": 2185, "referenceAllele": "G", "start": 2184 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677033.1:n.2185G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776701" }, { "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677045.1:c.*787G>A" ], "proteinEffect": { "hgvs": "ENSP00000504168.1:n.*787G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776713" }, { "coordinates": [ { "allele": "A", "end": 1770, "referenceAllele": "G", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677050.1:n.1770G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776718" }, { "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677063.1:c.*787G>A" ], "proteinEffect": { "hgvs": "ENSP00000504572.1:n.*787G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776731" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677081.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000503728.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776749" }, { "coordinates": [ { "allele": "A", "end": 2670, "referenceAllele": "G", "start": 2669 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677089.1:n.2670G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776756" }, { "coordinates": [ { "allele": "A", "end": 1581, "referenceAllele": "G", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677103.1:n.1581G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776769" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677138.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000504839.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776804" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677178.1:n.1419G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776842" }, { "coordinates": [ { "allele": "A", "end": 1341, "referenceAllele": "G", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677231.1:c.1038G>A" ], "proteinEffect": { "hgvs": "ENSP00000503378.1:p.Lys346=" }, "referenceSequence": "http://reg.genome.network/refseq/RS776894" }, { "coordinates": [ { "allele": "A", "end": 1470, "referenceAllele": "G", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677336.1:n.1470G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776999" }, { "coordinates": [ { "allele": "A", "end": 1914, "referenceAllele": "G", "start": 1913 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677350.1:n.1914G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777013" }, { "coordinates": [ { "allele": "A", "end": 1209, "referenceAllele": "G", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677358.1:n.1209G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777021" }, { "coordinates": [ { "allele": "A", "end": 1683, "referenceAllele": "G", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677383.1:n.1683G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777045" }, { "coordinates": [ { "allele": "A", "end": 1232, "referenceAllele": "G", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677453.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000503604.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777115" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677457.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000503294.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777119" }, { "coordinates": [ { "allele": "A", "end": 1470, "referenceAllele": "G", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677471.1:n.1470G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777133" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "G", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677495.1:n.1476G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777157" }, { "coordinates": [ { "allele": "A", "end": 1255, "referenceAllele": "G", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677547.1:c.*190G>A" ], "proteinEffect": { "hgvs": "ENSP00000504269.1:n.*190G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS777208" }, { "coordinates": [ { "allele": "A", "end": 1471, "referenceAllele": "G", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677550.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000503353.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777211" }, { "coordinates": [ { "allele": "A", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677577.1:n.3611G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777236" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677579.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000504162.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777238" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677613.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000504258.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777271" }, { "coordinates": [ { "allele": "A", "end": 1525, "referenceAllele": "G", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677643.1:n.1525G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777301" }, { "coordinates": [ { "allele": "A", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677653.1:c.*491G>A" ], "proteinEffect": { "hgvs": "ENSP00000504542.1:n.*491G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS777311" }, { "coordinates": [ { "allele": "A", "end": 1525, "endIntronDirection": "-", "endIntronOffset": 899, "referenceAllele": "G", "start": 1525, "startIntronDirection": "-", "startIntronOffset": 900 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677657.1:n.1526-900G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777315" }, { "coordinates": [ { "allele": "A", "end": 1770, "referenceAllele": "G", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677736.1:n.1770G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777391" }, { "coordinates": [ { "allele": "A", "end": 1030, "referenceAllele": "G", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677745.1:n.1030G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777399" }, { "coordinates": [ { "allele": "A", "end": 1735, "referenceAllele": "G", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677807.1:n.1735G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777459" }, { "coordinates": [ { "allele": "A", "end": 1914, "referenceAllele": "G", "start": 1913 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677809.1:n.1914G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777461" }, { "coordinates": [ { "allele": "A", "end": 1030, "referenceAllele": "G", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677837.1:c.*787G>A" ], "proteinEffect": { "hgvs": "ENSP00000503661.1:n.*787G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS777489" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677846.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000504065.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS777498" }, { "coordinates": [ { "allele": "A", "end": 3295, "referenceAllele": "G", "start": 3294 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677916.1:n.3295G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777568" }, { "coordinates": [ { "allele": "A", "end": 1735, "referenceAllele": "G", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677925.1:n.1735G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777577" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000677948.1:c.*801G>A" ], "proteinEffect": { "hgvs": "ENSP00000503510.1:n.*801G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS777600" }, { "coordinates": [ { "allele": "A", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678052.1:n.1598G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777702" }, { "coordinates": [ { "allele": "A", "end": 2847, "referenceAllele": "G", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678068.1:n.2847G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777718" }, { "coordinates": [ { "allele": "A", "end": 1827, "referenceAllele": "G", "start": 1826 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678130.1:n.1827G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777780" }, { "coordinates": [ { "allele": "A", "end": 1841, "endIntronDirection": "-", "endIntronOffset": 899, "referenceAllele": "G", "start": 1841, "startIntronDirection": "-", "startIntronOffset": 900 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678328.1:n.1842-900G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS777975" }, { "coordinates": [ { "allele": "A", "end": 2292, "referenceAllele": "G", "start": 2291 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678356.1:n.2292G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778003" }, { "coordinates": [ { "allele": "A", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678484.1:n.3611G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778127" }, { "coordinates": [ { "allele": "A", "end": 3375, "referenceAllele": "G", "start": 3374 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678492.1:n.3375G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778134" }, { "coordinates": [ { "allele": "A", "end": 1427, "referenceAllele": "G", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678507.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000504199.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778149" }, { "coordinates": [ { "allele": "A", "end": 1202, "referenceAllele": "G", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678511.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000504846.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778153" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678532.1:c.*801G>A" ], "proteinEffect": { "hgvs": "ENSP00000504682.1:n.*801G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778173" }, { "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "G", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678559.1:c.*910G>A" ], "proteinEffect": { "hgvs": "ENSP00000504285.1:n.*910G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778200" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678605.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000503969.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778246" }, { "coordinates": [ { "allele": "A", "end": 3375, "referenceAllele": "G", "start": 3374 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678613.1:n.3375G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778254" }, { "coordinates": [ { "allele": "A", "end": 1786, "referenceAllele": "G", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678648.1:n.1786G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778288" }, { "coordinates": [ { "allele": "A", "end": 1140, "referenceAllele": "G", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678783.1:c.1041G>A" ], "proteinEffect": { "hgvs": "ENSP00000504215.1:p.Lys347=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778421" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678793.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000503431.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778431" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "G", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678850.1:n.1476G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778488" }, { "coordinates": [ { "allele": "A", "end": 900, "endIntronDirection": "-", "endIntronOffset": 899, "referenceAllele": "G", "start": 900, "startIntronDirection": "-", "startIntronOffset": 900 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678880.1:c.*658-900G>A" ], "proteinEffect": { "hgvs": "ENSP00000503015.1:n.*658-900G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778517" }, { "coordinates": [ { "allele": "A", "end": 1341, "referenceAllele": "G", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678911.1:c.1038G>A" ], "proteinEffect": { "hgvs": "ENSP00000503946.1:p.Lys346=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778548" }, { "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "G", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678966.1:n.1534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778602" }, { "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "G", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000678982.1:c.*787G>A" ], "proteinEffect": { "hgvs": "ENSP00000504597.1:n.*787G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778618" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000679064.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000502868.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778699" }, { "coordinates": [ { "allele": "A", "end": 1648, "referenceAllele": "G", "start": 1647 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000679071.1:n.1648G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778706" }, { "coordinates": [ { "allele": "A", "end": 1216, "referenceAllele": "G", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000679142.1:c.1216G>A" ], "proteinEffect": { "hgvs": "ENSP00000504800.1:n.1216G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778777" }, { "coordinates": [ { "allele": "A", "end": 1030, "referenceAllele": "G", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000679169.1:c.*787G>A" ], "proteinEffect": { "hgvs": "ENSP00000504096.1:n.*787G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778804" }, { "coordinates": [ { "allele": "A", "end": 1567, "referenceAllele": "G", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000679176.1:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000504170.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS778811" }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000679215.1:n.1419G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS778849" }, { "coordinates": [ { "allele": "A", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000679239.1:c.*491G>A" ], "proteinEffect": { "hgvs": "ENSP00000504555.1:n.*491G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778873" }, { "coordinates": [ { "allele": "A", "end": 1289, "endIntronDirection": "-", "endIntronOffset": 899, "referenceAllele": "G", "start": 1289, "startIntronDirection": "-", "startIntronOffset": 900 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000679282.1:c.987-900G>A" ], "proteinEffect": { "hgvs": "ENSP00000504533.1:n.987-900G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS778916" }, { "coordinates": [ { "allele": "A", "end": 1564, "referenceAllele": "G", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000367993.7:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000356972.3:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266699" }, { "coordinates": [ { "allele": "A", "end": 1355, "referenceAllele": "G", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000392179.4:c.1116G>A" ], "proteinEffect": { "hgvs": "ENSP00000376018.4:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS274959" }, { "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000465923.5:n.481G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS309422" }, { "coordinates": [ { "allele": "A", "end": 130, "referenceAllele": "G", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000468828.5:n.130G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS311654" }, { "coordinates": [ { "allele": "A", "end": 918, "referenceAllele": "G", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000480762.5:n.918G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320833" }, { "coordinates": [ { "allele": "A", "end": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000483804.5:n.677G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS323199" }, { "coordinates": [ { "allele": "A", "end": 166, "referenceAllele": "G", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "ENST00000493849.5:n.166G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS330909" }, { "@id": "http://reg.genome.network/allele/PA2826026206", "coordinates": [ { "allele": "A", "end": 1355, "referenceAllele": "G", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "NM_001166159.1:c.1116G>A" ], "proteinEffect": { "hgvs": "NP_001159631.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS014811" }, { "@id": "http://reg.genome.network/allele/PA2829545736", "coordinates": [ { "allele": "A", "end": 1564, "referenceAllele": "G", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "NM_004550.4:c.1116G>A" ], "proteinEffect": { "hgvs": "NP_004541.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029707" }, { "coordinates": [ { "allele": "A", "end": 1424, "referenceAllele": "G", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "XM_005245208.1:c.1116G>A" ], "proteinEffect": { "hgvs": "XP_005245265.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057131" }, { "coordinates": [ { "allele": "A", "end": 1035, "referenceAllele": "G", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "XM_005245209.1:c.822G>A" ], "proteinEffect": { "hgvs": "XP_005245266.1:p.Lys274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057132" }, { "coordinates": [ { "allele": "A", "end": 1723, "referenceAllele": "G", "start": 1722 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "XM_005245209.2:c.822G>A" ], "proteinEffect": { "hgvs": "XP_005245266.1:p.Lys274=" }, "referenceSequence": "http://reg.genome.network/refseq/RS532380" }, { "@id": "http://reg.genome.network/allele/PA2826026206", "coordinates": [ { "allele": "A", "end": 1135, "referenceAllele": "G", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "NM_001166159.2:c.1116G>A" ], "proteinEffect": { "hgvs": "NP_001159631.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS678466" }, { "@id": "http://reg.genome.network/allele/PA2828710921", "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "G", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "NM_001377298.1:c.1116G>A" ], "proteinEffect": { "hgvs": "NP_001364227.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS695082" }, { "@id": "http://reg.genome.network/allele/PA2828711046", "coordinates": [ { "allele": "A", "end": 1135, "referenceAllele": "G", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "NM_001377299.1:c.1116G>A" ], "proteinEffect": { "hgvs": "NP_001364228.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS695083", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676972.1:c.1116G>A" }, "RefSeq": { "hgvs": "NM_001377299.1:c.1116G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503117.1:p.Lys372=" }, "RefSeq": { "hgvs": "NP_001364228.1:p.Lys372=" } } } }, { "@id": "http://reg.genome.network/allele/PA2828711171", "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "G", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "NM_001377300.1:c.1116G>A" ], "proteinEffect": { "hgvs": "NP_001364229.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS695084" }, { "@id": "http://reg.genome.network/allele/PA2828711293", "coordinates": [ { "allele": "A", "end": 1574, "referenceAllele": "G", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "NM_001377301.1:c.1116G>A" ], "proteinEffect": { "hgvs": "NP_001364230.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS695085" }, { "@id": "http://reg.genome.network/allele/PA2828711415", "coordinates": [ { "allele": "A", "end": 1135, "referenceAllele": "G", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "NM_001377302.1:c.1116G>A" ], "proteinEffect": { "hgvs": "NP_001364231.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS695086" }, { "coordinates": [ { "allele": "A", "end": 1005, "endIntronDirection": "-", "endIntronOffset": 899, "referenceAllele": "G", "start": 1005, "startIntronDirection": "-", "startIntronOffset": 900 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "NR_165188.1:n.1006-900G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706032" }, { "@id": "http://reg.genome.network/allele/PA2829545736", "coordinates": [ { "allele": "A", "end": 1564, "referenceAllele": "G", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN007708", "geneNCBI_id": 4720, "geneSymbol": "NDUFS2", "hgvs": [ "NM_004550.5:c.1116G>A" ], "proteinEffect": { "hgvs": "NP_004541.1:p.Lys372=" }, "referenceSequence": "http://reg.genome.network/refseq/RS727514" } ], "type": "nucleotide" }