Canonical Allele Identifier: CA2034964185

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024868A= , CM000674.2:g.49024868A=	GRCh38
NC_000012.11:g.49418651A= , CM000674.1:g.49418651A=	GRCh37
NC_000012.10:g.47704918A=	NCBI36
NG_027827.1:g.35457T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.535T=
ENST00000683543.2:c.15863T=	ENSP00000506726.1:p.Leu5288=
ENST00000683863.1:n.1578T=
ENST00000684428.1:c.398T=	ENSP00000507433.1:p.Leu133=
ENST00000684755.1:n.398T=
ENST00000685024.1:c.988T=
ENST00000685166.1:c.15872T=	ENSP00000509386.1:p.Leu5291=
ENST00000688411.1:c.340T=	ENSP00000510146.1:n.340T=
ENST00000691463.1:c.1249T=	ENSP00000510624.1:n.1249T=
ENST00000692637.1:c.15860T=	ENSP00000509666.1:p.Leu5287=
ENST00000301067.12:c.15863T= MANE Select	ENSP00000301067.7:p.Leu5288=
ENST00000301067.11:c.15863T=	ENSP00000301067.7:p.Leu5288=
NM_003482.3:c.15863T=	NP_003473.3:p.Leu5288=
XM_005269162.3:c.15863T=	XP_005269219.1:p.Leu5288=
XM_006719614.2:c.15872T=	XP_006719677.1:p.Leu5291=
XM_006719616.2:c.15860T=	XP_006719679.1:p.Leu5287=
XM_011538770.1:c.15872T=	XP_011537072.1:p.Leu5291=
XM_011538771.1:c.15869T=	XP_011537073.1:p.Leu5290=
XM_011538772.1:c.15863T=	XP_011537074.1:p.Leu5288=
XM_011538773.1:c.15860T=	XP_011537075.1:p.Leu5287=
XM_011538774.1:c.15851T=	XP_011537076.1:p.Leu5284=
XM_011538775.1:c.15806T=	XP_011537077.1:p.Leu5269=
XM_011538776.1:c.15779T=	XP_011537078.1:p.Leu5260=
XR_944740.1:n.17051T=
XM_005269162.4:c.15863T=	XP_005269219.1:p.Leu5288=
XM_006719614.4:c.15872T=	XP_006719677.1:p.Leu5291=
XM_006719616.3:c.15860T=	XP_006719679.1:p.Leu5287=
XM_011538770.2:c.15872T=	XP_011537072.1:p.Leu5291=
XM_011538771.2:c.15869T=	XP_011537073.1:p.Leu5290=
XM_011538772.2:c.15863T=	XP_011537074.1:p.Leu5288=
XM_011538773.2:c.15860T=	XP_011537075.1:p.Leu5287=
XM_011538774.2:c.15851T=	XP_011537076.1:p.Leu5284=
XM_011538776.2:c.15779T=	XP_011537078.1:p.Leu5260=
XR_001748874.1:n.16040T=
NM_003482.4:c.15863T= MANE Select	NP_003473.3:p.Leu5288=