{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6546831", "communityStandardTitle": [ "NM_003482.4(KMT2D):c.8521C>A (p.Pro2841Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=859978[alleleid]", "alleleId": 859978, "preferredName": "NM_003482.4(KMT2D):c.8521C>A (p.Pro2841Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/870987", "RCV": [ "RCV001090719", "RCV001873447" ], "variationId": 870987 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-49432618-G-T", "id": "12-49432618-G-T", "variant": "12:49432618 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49432618G>T?assembly=hg19", "id": "chr12:g.49432618G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.49038835G>T?assembly=hg38", "id": "chr12:g.49038835G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/763347763", "rs": 763347763 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-49432618-G-T?dataset=gnomad_r2_1", "id": "12-49432618-G-T", "variant": "12:49432618 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-49038835-G-T?dataset=gnomad_r4", "id": "12-49038835-G-T", "variant": "12:49038835 G / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 49038835, "referenceAllele": "G", "start": 49038834 } ], "hgvs": [ "NC_000012.12:g.49038835G>T", "CM000674.2:g.49038835G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 49432618, "referenceAllele": "G", "start": 49432617 } ], "hgvs": [ "NC_000012.11:g.49432618G>T", "CM000674.1:g.49432618G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 47718885, "referenceAllele": "G", "start": 47718884 } ], "hgvs": [ "NC_000012.10:g.47718885G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 21490, "referenceAllele": "C", "start": 21489 } ], "hgvs": [ "NG_027827.1:g.21490C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003992" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 220, "referenceAllele": "C", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000683043.1:n.220C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828030" }, { "coordinates": [ { "allele": "A", "end": 9740, "referenceAllele": "C", "start": 9739 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000683543.2:c.8521C>A" ], "proteinEffect": { "hgvs": "ENSP00000506726.1:p.Pro2841Thr", "hgvsWellDefined": "ENSP00000506726.1:p.Pro2841Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS828517" }, { "coordinates": [ { "allele": "A", "end": 8530, "referenceAllele": "C", "start": 8529 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000685166.1:c.8530C>A" ], "proteinEffect": { "hgvs": "ENSP00000509386.1:p.Pro2844Thr", "hgvsWellDefined": "ENSP00000509386.1:p.Pro2844Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS829915" }, { "coordinates": [ { "allele": "A", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000687201.1:c.85C>A" ], "proteinEffect": { "hgvs": "ENSP00000510037.1:p.Pro29Thr", "hgvsWellDefined": "ENSP00000510037.1:p.Pro29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS830967" }, { "coordinates": [ { "allele": "A", "end": 2124, "referenceAllele": "C", "start": 2123 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000689143.1:c.2124C>A" ], "proteinEffect": { "hgvs": "ENSP00000509839.1:p.Leu708=" }, "referenceSequence": "http://reg.genome.network/refseq/RS832017" }, { "coordinates": [ { "allele": "A", "end": 8518, "referenceAllele": "C", "start": 8517 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000692637.1:c.8518C>A" ], "proteinEffect": { "hgvs": "ENSP00000509666.1:p.Pro2840Thr", "hgvsWellDefined": "ENSP00000509666.1:p.Pro2840Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS833805" }, { "coordinates": [ { "allele": "A", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000692841.1:c.85C>A" ], "proteinEffect": { "hgvs": "ENSP00000508711.1:p.Pro29Thr", "hgvsWellDefined": "ENSP00000508711.1:p.Pro29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS833916" }, { "coordinates": [ { "allele": "A", "end": 9740, "referenceAllele": "C", "start": 9739 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.12:c.8521C>A" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Pro2841Thr", "hgvsWellDefined": "ENSP00000301067.7:p.Pro2841Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS744808", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.8521C>A" }, "RefSeq": { "hgvs": "NM_003482.4:c.8521C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Pro2841Thr" }, "RefSeq": { "hgvs": "NP_003473.3:p.Pro2841Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 8521, "referenceAllele": "C", "start": 8520 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000301067.11:c.8521C>A" ], "proteinEffect": { "hgvs": "ENSP00000301067.7:p.Pro2841Thr", "hgvsWellDefined": "ENSP00000301067.7:p.Pro2841Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS254955" }, { "coordinates": [ { "allele": "A", "end": 163, "referenceAllele": "C", "start": 162 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "ENST00000549799.1:n.163C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS367679" }, { "@id": "http://reg.genome.network/allele/PA1139712721", "coordinates": [ { "allele": "A", "end": 8521, "referenceAllele": "C", "start": 8520 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.3:c.8521C>A" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Pro2841Thr", "hgvsWellDefined": "NP_003473.3:p.Pro2841Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS028721" }, { "coordinates": [ { "allele": "A", "end": 9815, "referenceAllele": "C", "start": 9814 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.3:c.8521C>A" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Pro2841Thr", "hgvsWellDefined": "XP_005269219.1:p.Pro2841Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS066041" }, { "coordinates": [ { "allele": "A", "end": 9824, "referenceAllele": "C", "start": 9823 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.2:c.8530C>A" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Pro2844Thr", "hgvsWellDefined": "XP_006719677.1:p.Pro2844Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS073234" }, { "coordinates": [ { "allele": "A", "end": 9811, "referenceAllele": "C", "start": 9810 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.2:c.8518C>A" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Pro2840Thr", "hgvsWellDefined": "XP_006719679.1:p.Pro2840Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS073235" }, { "coordinates": [ { "allele": "A", "end": 9831, "referenceAllele": "C", "start": 9830 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.1:c.8530C>A" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Pro2844Thr", "hgvsWellDefined": "XP_011537072.1:p.Pro2844Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS105724" }, { "coordinates": [ { "allele": "A", "end": 9828, "referenceAllele": "C", "start": 9827 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.1:c.8527C>A" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Pro2843Thr", "hgvsWellDefined": "XP_011537073.1:p.Pro2843Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS105725" }, { "coordinates": [ { "allele": "A", "end": 9821, "referenceAllele": "C", "start": 9820 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.1:c.8521C>A" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Pro2841Thr", "hgvsWellDefined": "XP_011537074.1:p.Pro2841Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS105726" }, { "coordinates": [ { "allele": "A", "end": 9818, "referenceAllele": "C", "start": 9817 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.1:c.8518C>A" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Pro2840Thr", "hgvsWellDefined": "XP_011537075.1:p.Pro2840Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS105727" }, { "coordinates": [ { "allele": "A", "end": 9811, "referenceAllele": "C", "start": 9810 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.1:c.8509C>A" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Pro2837Thr", "hgvsWellDefined": "XP_011537076.1:p.Pro2837Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS105728" }, { "coordinates": [ { "allele": "A", "end": 9834, "referenceAllele": "C", "start": 9833 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538775.1:c.8530C>A" ], "proteinEffect": { "hgvs": "XP_011537077.1:p.Pro2844Thr", "hgvsWellDefined": "XP_011537077.1:p.Pro2844Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS105729" }, { "coordinates": [ { "allele": "A", "end": 9738, "referenceAllele": "C", "start": 9737 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.1:c.8437C>A" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Pro2813Thr", "hgvsWellDefined": "XP_011537078.1:p.Pro2813Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS105730" }, { "coordinates": [ { "allele": "A", "end": 10850, "referenceAllele": "C", "start": 10849 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_944740.1:n.10850C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS138562" }, { "coordinates": [ { "allele": "A", "end": 9800, "referenceAllele": "C", "start": 9799 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_005269162.4:c.8521C>A" ], "proteinEffect": { "hgvs": "XP_005269219.1:p.Pro2841Thr", "hgvsWellDefined": "XP_005269219.1:p.Pro2841Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS536724" }, { "coordinates": [ { "allele": "A", "end": 9810, "referenceAllele": "C", "start": 9809 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719614.4:c.8530C>A" ], "proteinEffect": { "hgvs": "XP_006719677.1:p.Pro2844Thr", "hgvsWellDefined": "XP_006719677.1:p.Pro2844Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS539912" }, { "coordinates": [ { "allele": "A", "end": 9797, "referenceAllele": "C", "start": 9796 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_006719616.3:c.8518C>A" ], "proteinEffect": { "hgvs": "XP_006719679.1:p.Pro2840Thr", "hgvsWellDefined": "XP_006719679.1:p.Pro2840Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS539913" }, { "coordinates": [ { "allele": "A", "end": 9812, "referenceAllele": "C", "start": 9811 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538770.2:c.8530C>A" ], "proteinEffect": { "hgvs": "XP_011537072.1:p.Pro2844Thr", "hgvsWellDefined": "XP_011537072.1:p.Pro2844Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS553412" }, { "coordinates": [ { "allele": "A", "end": 9809, "referenceAllele": "C", "start": 9808 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538771.2:c.8527C>A" ], "proteinEffect": { "hgvs": "XP_011537073.1:p.Pro2843Thr", "hgvsWellDefined": "XP_011537073.1:p.Pro2843Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS553413" }, { "coordinates": [ { "allele": "A", "end": 9803, "referenceAllele": "C", "start": 9802 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538772.2:c.8521C>A" ], "proteinEffect": { "hgvs": "XP_011537074.1:p.Pro2841Thr", "hgvsWellDefined": "XP_011537074.1:p.Pro2841Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS553414" }, { "coordinates": [ { "allele": "A", "end": 9800, "referenceAllele": "C", "start": 9799 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538773.2:c.8518C>A" ], "proteinEffect": { "hgvs": "XP_011537075.1:p.Pro2840Thr", "hgvsWellDefined": "XP_011537075.1:p.Pro2840Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS553415" }, { "coordinates": [ { "allele": "A", "end": 9792, "referenceAllele": "C", "start": 9791 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538774.2:c.8509C>A" ], "proteinEffect": { "hgvs": "XP_011537076.1:p.Pro2837Thr", "hgvsWellDefined": "XP_011537076.1:p.Pro2837Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS553416" }, { "coordinates": [ { "allele": "A", "end": 9719, "referenceAllele": "C", "start": 9718 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XM_011538776.2:c.8437C>A" ], "proteinEffect": { "hgvs": "XP_011537078.1:p.Pro2813Thr", "hgvsWellDefined": "XP_011537078.1:p.Pro2813Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS553417" }, { "coordinates": [ { "allele": "A", "end": 9839, "referenceAllele": "C", "start": 9838 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "XR_001748874.1:n.9839C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596813" }, { "@id": "http://reg.genome.network/allele/PA1139712721", "coordinates": [ { "allele": "A", "end": 9740, "referenceAllele": "C", "start": 9739 } ], "gene": "http://reg.genome.network/gene/GN007133", "geneNCBI_id": 8085, "geneSymbol": "KMT2D", "hgvs": [ "NM_003482.4:c.8521C>A" ], "proteinEffect": { "hgvs": "NP_003473.3:p.Pro2841Thr", "hgvsWellDefined": "NP_003473.3:p.Pro2841Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS695846", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301067.12:c.8521C>A" }, "RefSeq": { "hgvs": "NM_003482.4:c.8521C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301067.7:p.Pro2841Thr" }, "RefSeq": { "hgvs": "NP_003473.3:p.Pro2841Thr" } } } } ], "type": "nucleotide" }