Canonical Allele Identifier: CA384682121

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418476T>G (hg19) ; chr12:g.49024693T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024693T>G , CM000674.2:g.49024693T>G	GRCh38
NC_000012.11:g.49418476T>G , CM000674.1:g.49418476T>G	GRCh37
NC_000012.10:g.47704743T>G	NCBI36
NG_027827.1:g.35632A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.609A>C
ENST00000683543.2:c.15937A>C	ENSP00000506726.1:p.Ser5313Arg
ENST00000683863.1:n.1652A>C
ENST00000684428.1:c.472A>C	ENSP00000507433.1:p.Ser158Arg
ENST00000684755.1:n.472A>C
ENST00000685024.1:c.1091A>C
ENST00000685166.1:c.15946A>C	ENSP00000509386.1:p.Ser5316Arg
ENST00000688411.1:c.414A>C	ENSP00000510146.1:n.414A>C
ENST00000691932.1:c.16A>C	ENSP00000509037.1:p.Ser6Arg
ENST00000692637.1:c.15934A>C	ENSP00000509666.1:p.Ser5312Arg
ENST00000301067.12:c.15937A>C MANE Select	ENSP00000301067.7:p.Ser5313Arg
ENST00000301067.11:c.15937A>C	ENSP00000301067.7:p.Ser5313Arg
NM_003482.3:c.15937A>C	NP_003473.3:p.Ser5313Arg
XM_005269162.3:c.15937A>C	XP_005269219.1:p.Ser5313Arg
XM_006719614.2:c.15946A>C	XP_006719677.1:p.Ser5316Arg
XM_006719616.2:c.15934A>C	XP_006719679.1:p.Ser5312Arg
XM_011538770.1:c.15946A>C	XP_011537072.1:p.Ser5316Arg
XM_011538771.1:c.15943A>C	XP_011537073.1:p.Ser5315Arg
XM_011538772.1:c.15937A>C	XP_011537074.1:p.Ser5313Arg
XM_011538773.1:c.15934A>C	XP_011537075.1:p.Ser5312Arg
XM_011538774.1:c.15925A>C	XP_011537076.1:p.Ser5309Arg
XM_011538775.1:c.15880A>C	XP_011537077.1:p.Ser5294Arg
XM_011538776.1:c.15853A>C	XP_011537078.1:p.Ser5285Arg
XR_944740.1:n.17125A>C
XM_005269162.4:c.15937A>C	XP_005269219.1:p.Ser5313Arg
XM_006719614.4:c.15946A>C	XP_006719677.1:p.Ser5316Arg
XM_006719616.3:c.15934A>C	XP_006719679.1:p.Ser5312Arg
XM_011538770.2:c.15946A>C	XP_011537072.1:p.Ser5316Arg
XM_011538771.2:c.15943A>C	XP_011537073.1:p.Ser5315Arg
XM_011538772.2:c.15937A>C	XP_011537074.1:p.Ser5313Arg
XM_011538773.2:c.15934A>C	XP_011537075.1:p.Ser5312Arg
XM_011538774.2:c.15925A>C	XP_011537076.1:p.Ser5309Arg
XM_011538776.2:c.15853A>C	XP_011537078.1:p.Ser5285Arg
XR_001748874.1:n.16114A>C
NM_003482.4:c.15937A>C MANE Select	NP_003473.3:p.Ser5313Arg