{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384750410", "communityStandardTitle": [ "NM_003482.4(KMT2D):c.6572C>A (p.Thr2191Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2202375[alleleid]", "alleleId": 2202375, "preferredName": "NM_003482.4(KMT2D):c.6572C>A (p.Thr2191Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2216778", "RCV": [ "RCV002682582", "RCV003777608" ], "variationId": 2216778 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49434981G>T?assembly=hg19", "id": "chr12:g.49434981G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49041198G>T?assembly=hg38", "id": "chr12:g.49041198G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/572145631", "rs": 572145631 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-49041198-G-T?dataset=gnomad_r4", "id": "12-49041198-G-T", "variant": "12:49041198 G / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 49041198, "referenceAllele": "G", "start": 49041197 } ], "hgvs": [ "NC_000012.12:g.49041198G>T", "CM000674.2:g.49041198G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 49434981, "referenceAllele": "G", "start": 49434980 } ], "hgvs": [ "NC_000012.11:g.49434981G>T", "CM000674.1:g.49434981G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 47721248, "referenceAllele": "G", "start": 47721247 } ], "hgvs": [ "NC_000012.10:g.47721248G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 19127, "referenceAllele": "C", "start": 19126 } ], "hgvs": [ "NG_027827.1:g.19127C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003992" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 7791, "referenceAllele": "C", "start": 7790 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000683543.2:c.6572C>A" ], "proteinEffect": { "hgvs": "ENSP00000506726.1:p.Thr2191Lys", "hgvsWellDefined": "ENSP00000506726.1:p.Thr2191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS828517" }, { "coordinates": [ { "allele": "A", "end": 6581, "referenceAllele": "C", "start": 6580 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000685166.1:c.6581C>A" ], "proteinEffect": { "hgvs": "ENSP00000509386.1:p.Thr2194Lys", "hgvsWellDefined": "ENSP00000509386.1:p.Thr2194Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS829915" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "C", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000689060.1:c.591C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831968" }, { "coordinates": [ { "allele": "A", "end": 245, "referenceAllele": "C", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000689143.1:c.245C>A" ], "proteinEffect": { "hgvs": "ENSP00000509839.1:p.Thr82Lys", "hgvsWellDefined": "ENSP00000509839.1:p.Thr82Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS832017" }, { "coordinates": [ { "allele": "A", "end": 681, "referenceAllele": "C", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000689944.1:c.681C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832457" }, { "coordinates": [ { "allele": "A", "end": 6569, "referenceAllele": "C", "start": 6568 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000692637.1:c.6569C>A" ], "proteinEffect": { "hgvs": "ENSP00000509666.1:p.Thr2190Lys", "hgvsWellDefined": "ENSP00000509666.1:p.Thr2190Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS833805" }, { "coordinates": [ { "allele": "A", "end": 7791, "referenceAllele": "C", "start": 7790 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.12:c.6572C>A" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Thr2191Lys", "hgvsWellDefined": "ENSP00000301067.7:p.Thr2191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS744808", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.6572C>A" }, "RefSeq": { "hgvs": "NM_003482.4:c.6572C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Thr2191Lys" }, "RefSeq": { "hgvs": "NP_003473.3:p.Thr2191Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 6572, "referenceAllele": "C", "start": 6571 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.11:c.6572C>A" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Thr2191Lys", "hgvsWellDefined": "ENSP00000301067.7:p.Thr2191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS254955" }, { "@id": "http://reg.genome.network/allele/PA2580284004", "coordinates": [ { "allele": "A", "end": 6572, "referenceAllele": "C", "start": 6571 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.3:c.6572C>A" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Thr2191Lys", "hgvsWellDefined": "NP_003473.3:p.Thr2191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS028721" }, { "coordinates": [ { "allele": "A", "end": 7866, "referenceAllele": "C", "start": 7865 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.3:c.6572C>A" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Thr2191Lys", "hgvsWellDefined": "XP_005269219.1:p.Thr2191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS066041" }, { "coordinates": [ { "allele": "A", "end": 7875, "referenceAllele": "C", "start": 7874 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.2:c.6581C>A" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Thr2194Lys", "hgvsWellDefined": "XP_006719677.1:p.Thr2194Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS073234" }, { "coordinates": [ { "allele": "A", "end": 7862, "referenceAllele": "C", "start": 7861 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.2:c.6569C>A" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Thr2190Lys", "hgvsWellDefined": "XP_006719679.1:p.Thr2190Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS073235" }, { "coordinates": [ { "allele": "A", "end": 7882, "referenceAllele": "C", "start": 7881 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.1:c.6581C>A" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Thr2194Lys", "hgvsWellDefined": "XP_011537072.1:p.Thr2194Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105724" }, { "coordinates": [ { "allele": "A", "end": 7879, "referenceAllele": "C", "start": 7878 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.1:c.6578C>A" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Thr2193Lys", "hgvsWellDefined": "XP_011537073.1:p.Thr2193Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105725" }, { "coordinates": [ { "allele": "A", "end": 7872, "referenceAllele": "C", "start": 7871 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.1:c.6572C>A" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Thr2191Lys", "hgvsWellDefined": "XP_011537074.1:p.Thr2191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105726" }, { "coordinates": [ { "allele": "A", "end": 7869, "referenceAllele": "C", "start": 7868 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.1:c.6569C>A" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Thr2190Lys", "hgvsWellDefined": "XP_011537075.1:p.Thr2190Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105727" }, { "coordinates": [ { "allele": "A", "end": 7862, "referenceAllele": "C", "start": 7861 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.1:c.6560C>A" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Thr2187Lys", "hgvsWellDefined": "XP_011537076.1:p.Thr2187Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105728" }, { "coordinates": [ { "allele": "A", "end": 7885, "referenceAllele": "C", "start": 7884 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538775.1:c.6581C>A" ], "proteinEffect": { "hgvs": "XP_011537077.1:p.Thr2194Lys", "hgvsWellDefined": "XP_011537077.1:p.Thr2194Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105729" }, { "coordinates": [ { "allele": "A", "end": 7789, "referenceAllele": "C", "start": 7788 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.1:c.6488C>A" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Thr2163Lys", "hgvsWellDefined": "XP_011537078.1:p.Thr2163Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105730" }, { "coordinates": [ { "allele": "A", "end": 8901, "referenceAllele": "C", "start": 8900 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_944740.1:n.8901C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS138562" }, { "coordinates": [ { "allele": "A", "end": 7851, "referenceAllele": "C", "start": 7850 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.4:c.6572C>A" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Thr2191Lys", "hgvsWellDefined": "XP_005269219.1:p.Thr2191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS536724" }, { "coordinates": [ { "allele": "A", "end": 7861, "referenceAllele": "C", "start": 7860 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.4:c.6581C>A" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Thr2194Lys", "hgvsWellDefined": "XP_006719677.1:p.Thr2194Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS539912" }, { "coordinates": [ { "allele": "A", "end": 7848, "referenceAllele": "C", "start": 7847 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.3:c.6569C>A" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Thr2190Lys", "hgvsWellDefined": "XP_006719679.1:p.Thr2190Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS539913" }, { "coordinates": [ { "allele": "A", "end": 7863, "referenceAllele": "C", "start": 7862 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.2:c.6581C>A" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Thr2194Lys", "hgvsWellDefined": "XP_011537072.1:p.Thr2194Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553412" }, { "coordinates": [ { "allele": "A", "end": 7860, "referenceAllele": "C", "start": 7859 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.2:c.6578C>A" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Thr2193Lys", "hgvsWellDefined": "XP_011537073.1:p.Thr2193Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553413" }, { "coordinates": [ { "allele": "A", "end": 7854, "referenceAllele": "C", "start": 7853 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.2:c.6572C>A" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Thr2191Lys", "hgvsWellDefined": "XP_011537074.1:p.Thr2191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553414" }, { "coordinates": [ { "allele": "A", "end": 7851, "referenceAllele": "C", "start": 7850 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.2:c.6569C>A" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Thr2190Lys", "hgvsWellDefined": "XP_011537075.1:p.Thr2190Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553415" }, { "coordinates": [ { "allele": "A", "end": 7843, "referenceAllele": "C", "start": 7842 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.2:c.6560C>A" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Thr2187Lys", "hgvsWellDefined": "XP_011537076.1:p.Thr2187Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553416" }, { "coordinates": [ { "allele": "A", "end": 7770, "referenceAllele": "C", "start": 7769 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.2:c.6488C>A" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Thr2163Lys", "hgvsWellDefined": "XP_011537078.1:p.Thr2163Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553417" }, { "coordinates": [ { "allele": "A", "end": 7890, "referenceAllele": "C", "start": 7889 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_001748874.1:n.7890C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596813" }, { "@id": "http://reg.genome.network/allele/PA2580284004", "coordinates": [ { "allele": "A", "end": 7791, "referenceAllele": "C", "start": 7790 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.4:c.6572C>A" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Thr2191Lys", "hgvsWellDefined": "NP_003473.3:p.Thr2191Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS695846", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.6572C>A" }, "RefSeq": { "hgvs": "NM_003482.4:c.6572C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Thr2191Lys" }, "RefSeq": { "hgvs": "NP_003473.3:p.Thr2191Lys" } } } } ], "type": "nucleotide" }