{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA362574637", "communityStandardTitle": [ "NM_000904.6(NQO2):c.139C>G (p.Leu47Val)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.3010390C>G?assembly=hg19", "id": "chr6:g.3010390C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.3010156C>G?assembly=hg38", "id": "chr6:g.3010156C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1143684", "rs": 1143684 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "G", "end": 3010156, "referenceAllele": "C", "start": 3010155 } ], "hgvs": [ "NC_000006.12:g.3010156C>G", "CM000668.2:g.3010156C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "G", "end": 3010390, "referenceAllele": "C", "start": 3010389 } ], "hgvs": [ "NC_000006.11:g.3010390C>G", "CM000668.1:g.3010390C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "G", "end": 2955389, "referenceAllele": "C", "start": 2955388 } ], "hgvs": [ "NC_000006.10:g.2955389C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "G", "end": 15341, "referenceAllele": "C", "start": 15340 } ], "hgvs": [ "NG_034013.1:g.15341C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS005675" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000338130.7:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000337773.2:p.Leu47Val", "hgvsWellDefined": "ENSP00000337773.2:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS747714" }, { "coordinates": [ { "allele": "G", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000380430.6:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000369795.1:p.Leu47Val", "hgvsWellDefined": "ENSP00000369795.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS752380" }, { "coordinates": [ { "allele": "G", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000380455.11:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000369822.4:p.Leu47Val", "hgvsWellDefined": "ENSP00000369822.4:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS752384", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380455.11:c.139C>G" }, "RefSeq": { "hgvs": "NM_000904.6:c.139C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369822.4:p.Leu47Val" }, "RefSeq": { "hgvs": "NP_000895.2:p.Leu47Val" } } } }, { "coordinates": [ { "allele": "G", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000397717.7:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000380829.2:p.Leu47Val", "hgvsWellDefined": "ENSP00000380829.2:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS753674" }, { "coordinates": [ { "allele": "G", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000338130.6:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000337773.2:p.Leu47Val", "hgvsWellDefined": "ENSP00000337773.2:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS260589" }, { "coordinates": [ { "allele": "G", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000380430.5:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000369795.1:p.Leu47Val", "hgvsWellDefined": "ENSP00000369795.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS272922" }, { "coordinates": [ { "allele": "G", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000380441.5:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000369806.1:p.Leu47Val", "hgvsWellDefined": "ENSP00000369806.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS272925" }, { "coordinates": [ { "allele": "G", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000380454.8:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000369821.4:p.Leu47Val", "hgvsWellDefined": "ENSP00000369821.4:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS272930" }, { "coordinates": [ { "allele": "G", "end": 313, "referenceAllele": "C", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000380455.8:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000369822.4:p.Leu47Val", "hgvsWellDefined": "ENSP00000369822.4:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS272931" }, { "coordinates": [ { "allele": "G", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000380472.7:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000369839.3:p.Leu47Val", "hgvsWellDefined": "ENSP00000369839.3:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS272938" }, { "coordinates": [ { "allele": "G", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000397717.6:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000380829.2:p.Leu47Val", "hgvsWellDefined": "ENSP00000380829.2:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS277946" }, { "coordinates": [ { "allele": "G", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000426637.5:c.139C>G" ], "proteinEffect": { "hgvs": "ENSP00000406951.1:p.Leu47Val", "hgvsWellDefined": "ENSP00000406951.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS289309" }, { "coordinates": [ { "allele": "G", "end": 437, "referenceAllele": "C", "start": 436 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "ENST00000606474.1:c.*151C>G" ], "proteinEffect": { "hgvs": "ENSP00000475864.1:n.*151C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS399719" }, { "@id": "http://reg.genome.network/allele/PA3072126091", "coordinates": [ { "allele": "G", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "NM_000904.4:c.139C>G" ], "proteinEffect": { "hgvs": "NP_000895.2:p.Leu47Val", "hgvsWellDefined": "NP_000895.2:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006930" }, { "coordinates": [ { "allele": "G", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "NM_001290221.1:c.139C>G" ], "proteinEffect": { "hgvs": "NP_001277150.1:p.Leu47Val", "hgvsWellDefined": "NP_001277150.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024074" }, { "coordinates": [ { "allele": "G", "end": 494, "referenceAllele": "C", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "NM_001290222.1:c.139C>G" ], "proteinEffect": { "hgvs": "NP_001277151.1:p.Leu47Val", "hgvsWellDefined": "NP_001277151.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024075" }, { "coordinates": [ { "allele": "G", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "XM_005249148.2:c.139C>G" ], "proteinEffect": { "hgvs": "XP_005249205.1:p.Leu47Val", "hgvsWellDefined": "XP_005249205.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS058730" }, { "coordinates": [ { "allele": "G", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "XM_005249149.2:c.139C>G" ], "proteinEffect": { "hgvs": "XP_005249206.1:p.Leu47Val", "hgvsWellDefined": "XP_005249206.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS058731" }, { "coordinates": [ { "allele": "G", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "XM_005249150.2:c.139C>G" ], "proteinEffect": { "hgvs": "XP_005249207.1:p.Leu47Val", "hgvsWellDefined": "XP_005249207.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS058732" }, { "coordinates": [ { "allele": "G", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "XM_005249151.3:c.139C>G" ], "proteinEffect": { "hgvs": "XP_005249208.1:p.Leu47Val", "hgvsWellDefined": "XP_005249208.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS058733" }, { "coordinates": [ { "allele": "G", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "XM_006715100.1:c.139C>G" ], "proteinEffect": { "hgvs": "XP_006715163.1:p.Leu47Val", "hgvsWellDefined": "XP_006715163.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS071013" }, { "coordinates": [ { "allele": "G", "end": 224, "referenceAllele": "C", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "XM_011514642.1:c.139C>G" ], "proteinEffect": { "hgvs": "XP_011512944.1:p.Leu47Val", "hgvsWellDefined": "XP_011512944.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081867" }, { "coordinates": [ { "allele": "G", "end": 926, "referenceAllele": "C", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "XM_011514643.1:c.139C>G" ], "proteinEffect": { "hgvs": "XP_011512945.1:p.Leu47Val", "hgvsWellDefined": "XP_011512945.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081868" }, { "coordinates": [ { "allele": "G", "end": 417, "referenceAllele": "C", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "XM_011514644.1:c.139C>G" ], "proteinEffect": { "hgvs": "XP_011512946.1:p.Leu47Val", "hgvsWellDefined": "XP_011512946.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081869" }, { "coordinates": [ { "allele": "G", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "XM_011514645.1:c.139C>G" ], "proteinEffect": { "hgvs": "XP_011512947.1:p.Leu47Val", "hgvsWellDefined": "XP_011512947.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081870" }, { "coordinates": [ { "allele": "G", "end": 251, "referenceAllele": "C", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "XM_011514646.1:c.139C>G" ], "proteinEffect": { "hgvs": "XP_011512948.1:p.Leu47Val", "hgvsWellDefined": "XP_011512948.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS081871" }, { "coordinates": [ { "allele": "G", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "NM_001318940.1:c.139C>G" ], "proteinEffect": { "hgvs": "NP_001305869.1:p.Leu47Val", "hgvsWellDefined": "NP_001305869.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS513157" }, { "@id": "http://reg.genome.network/allele/PA3072126091", "coordinates": [ { "allele": "G", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "NM_000904.6:c.139C>G" ], "proteinEffect": { "hgvs": "NP_000895.2:p.Leu47Val", "hgvsWellDefined": "NP_000895.2:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS674981", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380455.11:c.139C>G" }, "RefSeq": { "hgvs": "NM_000904.6:c.139C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369822.4:p.Leu47Val" }, "RefSeq": { "hgvs": "NP_000895.2:p.Leu47Val" } } } }, { "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "NM_001290221.2:c.139C>G" ], "proteinEffect": { "hgvs": "NP_001277150.1:p.Leu47Val", "hgvsWellDefined": "NP_001277150.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716647" }, { "coordinates": [ { "allele": "G", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "NM_001290222.2:c.139C>G" ], "proteinEffect": { "hgvs": "NP_001277151.1:p.Leu47Val", "hgvsWellDefined": "NP_001277151.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716648" }, { "coordinates": [ { "allele": "G", "end": 698, "referenceAllele": "C", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN007856", "geneNCBI_id": 4835, "geneSymbol": "NQO2", "hgvs": [ "NM_001318940.2:c.139C>G" ], "proteinEffect": { "hgvs": "NP_001305869.1:p.Leu47Val", "hgvsWellDefined": "NP_001305869.1:p.Leu47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS717635" } ], "type": "nucleotide" }