{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA382831726", "communityStandardTitle": [ "NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415250[alleleid]", "alleleId": 415250, "preferredName": "NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426928", "RCV": [ "RCV000489772", "RCV001376037" ], "variationId": 426928 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.118359339G>A?assembly=hg19", "id": "chr11:g.118359339G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.118488624G>A?assembly=hg38", "id": "chr11:g.118488624G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307857", "rs": 1085307857 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 118488624, "referenceAllele": "G", "start": 118488623 } ], "hgvs": [ "NC_000011.10:g.118488624G>A", "CM000673.2:g.118488624G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 118359339, "referenceAllele": "G", "start": 118359338 } ], "hgvs": [ "NC_000011.9:g.118359339G>A", "CM000673.1:g.118359339G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 117864549, "referenceAllele": "G", "start": 117864548 } ], "hgvs": [ "NC_000011.8:g.117864549G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 57135, "referenceAllele": "G", "start": 57134 } ], "hgvs": [ "NG_027813.1:g.57135G>A", "LRG_613:g.57135G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003978" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4463, "referenceAllele": "G", "start": 4462 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000531904.7:c.4442G>A" ], "proteinEffect": { "hgvs": "ENSP00000432391.3:p.Cys1481Tyr", "hgvsWellDefined": "ENSP00000432391.3:p.Cys1481Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914243" }, { "coordinates": [ { "allele": "A", "end": 4498, "referenceAllele": "G", "start": 4497 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000710560.1:c.4442G>A" ], "proteinEffect": { "hgvs": "ENSP00000518343.1:p.Cys1481Tyr", "hgvsWellDefined": "ENSP00000518343.1:p.Cys1481Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914540" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000420751.4:c.254G>A" ], "proteinEffect": { "hgvs": "ENSP00000510776.1:p.Cys85Tyr", "hgvsWellDefined": "ENSP00000510776.1:p.Cys85Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS824699" }, { "coordinates": [ { "allele": "A", "end": 122, "referenceAllele": "G", "start": 121 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000685498.1:c.122G>A" ], "proteinEffect": { "hgvs": "ENSP00000509293.1:p.Cys41Tyr", "hgvsWellDefined": "ENSP00000509293.1:p.Cys41Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS830109" }, { "coordinates": [ { "allele": "A", "end": 4351, "referenceAllele": "G", "start": 4350 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000691053.1:c.4343G>A" ], "proteinEffect": { "hgvs": "ENSP00000509168.1:p.Cys1448Tyr", "hgvsWellDefined": "ENSP00000509168.1:p.Cys1448Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS833016" }, { "coordinates": [ { "allele": "A", "end": 4366, "referenceAllele": "G", "start": 4365 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000389506.10:c.4343G>A" ], "proteinEffect": { "hgvs": "ENSP00000374157.5:p.Cys1448Tyr", "hgvsWellDefined": "ENSP00000374157.5:p.Cys1448Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS752814" }, { "coordinates": [ { "allele": "A", "end": 4364, "referenceAllele": "G", "start": 4363 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000534358.8:c.4343G>A" ], "proteinEffect": { "hgvs": "ENSP00000436786.2:p.Cys1448Tyr", "hgvsWellDefined": "ENSP00000436786.2:p.Cys1448Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS759393", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534358.8:c.4343G>A" }, "RefSeq": { "hgvs": "NM_001197104.2:c.4343G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436786.2:p.Cys1448Tyr" }, "RefSeq": { "hgvs": "NP_001184033.1:p.Cys1448Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 4229, "referenceAllele": "G", "start": 4228 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000649699.1:c.4229G>A" ], "proteinEffect": { "hgvs": "ENSP00000496927.1:p.Cys1410Tyr", "hgvsWellDefined": "ENSP00000496927.1:p.Cys1410Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS770690" }, { "coordinates": [ { "allele": "A", "end": 4343, "referenceAllele": "G", "start": 4342 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000389506.9:c.4343G>A" ], "proteinEffect": { "hgvs": "ENSP00000374157.5:p.Cys1448Tyr", "hgvsWellDefined": "ENSP00000374157.5:p.Cys1448Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS274225" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000392873.3:c.479G>A" ], "proteinEffect": { "hgvs": "ENSP00000376612.3:p.Cys160Tyr", "hgvsWellDefined": "ENSP00000376612.3:p.Cys160Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS275334" }, { "coordinates": [ { "allele": "A", "end": 4366, "referenceAllele": "G", "start": 4365 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "ENST00000534358.5:c.4343G>A" ], "proteinEffect": { "hgvs": "ENSP00000436786.1:p.Cys1448Tyr", "hgvsWellDefined": "ENSP00000436786.1:p.Cys1448Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS358979" }, { "@id": "http://reg.genome.network/allele/PA645381861", "coordinates": [ { "allele": "A", "end": 4366, "referenceAllele": "G", "start": 4365 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_001197104.1:c.4343G>A", "LRG_613t1:c.4343G>A" ], "proteinEffect": { "hgvs": "NP_001184033.1:p.Cys1448Tyr", "hgvsWellDefined": "NP_001184033.1:p.Cys1448Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS016695" }, { "@id": "http://reg.genome.network/allele/PA916009860", "coordinates": [ { "allele": "A", "end": 4366, "referenceAllele": "G", "start": 4365 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_005933.3:c.4343G>A" ], "proteinEffect": { "hgvs": "NP_005924.2:p.Cys1448Tyr", "hgvsWellDefined": "NP_005924.2:p.Cys1448Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS030989" }, { "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "G", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_006718839.2:c.1826G>A" ], "proteinEffect": { "hgvs": "XP_006718902.2:p.Cys609Tyr", "hgvsWellDefined": "XP_006718902.2:p.Cys609Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS072816" }, { "coordinates": [ { "allele": "A", "end": 4457, "referenceAllele": "G", "start": 4456 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542829.1:c.4442G>A" ], "proteinEffect": { "hgvs": "XP_011541131.1:p.Cys1481Tyr", "hgvsWellDefined": "XP_011541131.1:p.Cys1481Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS109758" }, { "coordinates": [ { "allele": "A", "end": 4457, "referenceAllele": "G", "start": 4456 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542830.1:c.4442G>A" ], "proteinEffect": { "hgvs": "XP_011541132.1:p.Cys1481Tyr", "hgvsWellDefined": "XP_011541132.1:p.Cys1481Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS109759" }, { "coordinates": [ { "allele": "A", "end": 4457, "referenceAllele": "G", "start": 4456 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542831.1:c.4442G>A" ], "proteinEffect": { "hgvs": "XP_011541133.1:p.Cys1481Tyr", "hgvsWellDefined": "XP_011541133.1:p.Cys1481Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS109760" }, { "coordinates": [ { "allele": "A", "end": 2264, "referenceAllele": "G", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542832.1:c.2249G>A" ], "proteinEffect": { "hgvs": "XP_011541134.1:p.Cys750Tyr", "hgvsWellDefined": "XP_011541134.1:p.Cys750Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS109761" }, { "coordinates": [ { "allele": "A", "end": 1940, "referenceAllele": "G", "start": 1939 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542833.1:c.1925G>A" ], "proteinEffect": { "hgvs": "XP_011541135.1:p.Cys642Tyr", "hgvsWellDefined": "XP_011541135.1:p.Cys642Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS109762" }, { "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "G", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_006718839.3:c.1826G>A" ], "proteinEffect": { "hgvs": "XP_006718902.2:p.Cys609Tyr", "hgvsWellDefined": "XP_006718902.2:p.Cys609Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS539720" }, { "coordinates": [ { "allele": "A", "end": 4457, "referenceAllele": "G", "start": 4456 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542829.2:c.4442G>A" ], "proteinEffect": { "hgvs": "XP_011541131.1:p.Cys1481Tyr", "hgvsWellDefined": "XP_011541131.1:p.Cys1481Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554940" }, { "coordinates": [ { "allele": "A", "end": 4457, "referenceAllele": "G", "start": 4456 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542830.2:c.4442G>A" ], "proteinEffect": { "hgvs": "XP_011541132.1:p.Cys1481Tyr", "hgvsWellDefined": "XP_011541132.1:p.Cys1481Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554941" }, { "coordinates": [ { "allele": "A", "end": 4457, "referenceAllele": "G", "start": 4456 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542831.2:c.4442G>A" ], "proteinEffect": { "hgvs": "XP_011541133.1:p.Cys1481Tyr", "hgvsWellDefined": "XP_011541133.1:p.Cys1481Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554942" }, { "coordinates": [ { "allele": "A", "end": 1940, "referenceAllele": "G", "start": 1939 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "XM_011542833.2:c.1925G>A" ], "proteinEffect": { "hgvs": "XP_011541135.1:p.Cys642Tyr", "hgvsWellDefined": "XP_011541135.1:p.Cys642Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554943" }, { "@id": "http://reg.genome.network/allele/PA645381861", "coordinates": [ { "allele": "A", "end": 4364, "referenceAllele": "G", "start": 4363 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_001197104.2:c.4343G>A" ], "proteinEffect": { "hgvs": "NP_001184033.1:p.Cys1448Tyr", "hgvsWellDefined": "NP_001184033.1:p.Cys1448Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS679350", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534358.8:c.4343G>A" }, "RefSeq": { "hgvs": "NM_001197104.2:c.4343G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436786.2:p.Cys1448Tyr" }, "RefSeq": { "hgvs": "NP_001184033.1:p.Cys1448Tyr" } } } }, { "@id": "http://reg.genome.network/allele/PA916009860", "coordinates": [ { "allele": "A", "end": 4364, "referenceAllele": "G", "start": 4363 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_005933.4:c.4343G>A" ], "proteinEffect": { "hgvs": "NP_005924.2:p.Cys1448Tyr", "hgvsWellDefined": "NP_005924.2:p.Cys1448Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS696566" } ], "type": "nucleotide" }