Canonical Allele Identifier: CA160553

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 134693
• ClinVar RCV Id: RCV000121403 ; RCV000763857 ; RCV000767217 ; RCV001854641
• dbSNP Id: rs374216845
• ExAC: 12:49435269 C / T
• gnomAD v2: 12-49435269-C-T
• gnomAD v3: 12-49041486-C-T
• gnomAD v4: 12-49041486-C-T
• COSMIC: COSM2007123 ; COSM2007124
• MyVariant Identifiers: chr12:g.49435269C>T (hg19) ; chr12:g.49041486C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49041486C>T , CM000674.2:g.49041486C>T	GRCh38
NC_000012.11:g.49435269C>T , CM000674.1:g.49435269C>T	GRCh37
NC_000012.10:g.47721536C>T	NCBI36
NG_027827.1:g.18839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.6284G>A	ENSP00000506726.1:p.Arg2095His
ENST00000685166.1:c.6293G>A	ENSP00000509386.1:p.Arg2098His
ENST00000689060.1:c.347-44G>A
ENST00000689944.1:c.393G>A
ENST00000692637.1:c.6281G>A	ENSP00000509666.1:p.Arg2094His
ENST00000301067.12:c.6284G>A MANE Select	ENSP00000301067.7:p.Arg2095His
ENST00000301067.11:c.6284G>A	ENSP00000301067.7:p.Arg2095His
NM_003482.3:c.6284G>A	NP_003473.3:p.Arg2095His
XM_005269162.3:c.6284G>A	XP_005269219.1:p.Arg2095His
XM_006719614.2:c.6293G>A	XP_006719677.1:p.Arg2098His
XM_006719616.2:c.6281G>A	XP_006719679.1:p.Arg2094His
XM_011538770.1:c.6293G>A	XP_011537072.1:p.Arg2098His
XM_011538771.1:c.6290G>A	XP_011537073.1:p.Arg2097His
XM_011538772.1:c.6284G>A	XP_011537074.1:p.Arg2095His
XM_011538773.1:c.6281G>A	XP_011537075.1:p.Arg2094His
XM_011538774.1:c.6272G>A	XP_011537076.1:p.Arg2091His
XM_011538775.1:c.6293G>A	XP_011537077.1:p.Arg2098His
XM_011538776.1:c.6244-44G>A	XP_011537078.1:n.6244-44G>A
XR_944740.1:n.8613G>A
XM_005269162.4:c.6284G>A	XP_005269219.1:p.Arg2095His
XM_006719614.4:c.6293G>A	XP_006719677.1:p.Arg2098His
XM_006719616.3:c.6281G>A	XP_006719679.1:p.Arg2094His
XM_011538770.2:c.6293G>A	XP_011537072.1:p.Arg2098His
XM_011538771.2:c.6290G>A	XP_011537073.1:p.Arg2097His
XM_011538772.2:c.6284G>A	XP_011537074.1:p.Arg2095His
XM_011538773.2:c.6281G>A	XP_011537075.1:p.Arg2094His
XM_011538774.2:c.6272G>A	XP_011537076.1:p.Arg2091His
XM_011538776.2:c.6244-44G>A	XP_011537078.1:n.6244-44G>A
XR_001748874.1:n.7602G>A
NM_003482.4:c.6284G>A MANE Select	NP_003473.3:p.Arg2095His