Canonical Allele Identifier: CA2034959547

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039507G= , CM000674.2:g.49039507G=	GRCh38
NC_000012.11:g.49433290G= , CM000674.1:g.49433290G=	GRCh37
NC_000012.10:g.47719557G=	NCBI36
NG_027827.1:g.20818C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8157C=	ENSP00000506726.1:p.Ser2719=
ENST00000685166.1:c.8166C=	ENSP00000509386.1:p.Ser2722=
ENST00000689060.1:c.2176C=
ENST00000689143.1:c.1830C=	ENSP00000509839.1:p.Ser610=
ENST00000689944.1:c.2266C=
ENST00000692637.1:c.8154C=	ENSP00000509666.1:p.Ser2718=
ENST00000301067.12:c.8157C= MANE Select	ENSP00000301067.7:p.Ser2719=
ENST00000301067.11:c.8157C=	ENSP00000301067.7:p.Ser2719=
NM_003482.3:c.8157C=	NP_003473.3:p.Ser2719=
XM_005269162.3:c.8157C=	XP_005269219.1:p.Ser2719=
XM_006719614.2:c.8166C=	XP_006719677.1:p.Ser2722=
XM_006719616.2:c.8154C=	XP_006719679.1:p.Ser2718=
XM_011538770.1:c.8166C=	XP_011537072.1:p.Ser2722=
XM_011538771.1:c.8163C=	XP_011537073.1:p.Ser2721=
XM_011538772.1:c.8157C=	XP_011537074.1:p.Ser2719=
XM_011538773.1:c.8154C=	XP_011537075.1:p.Ser2718=
XM_011538774.1:c.8145C=	XP_011537076.1:p.Ser2715=
XM_011538775.1:c.8166C=	XP_011537077.1:p.Ser2722=
XM_011538776.1:c.8073C=	XP_011537078.1:p.Ser2691=
XR_944740.1:n.10486C=
XM_005269162.4:c.8157C=	XP_005269219.1:p.Ser2719=
XM_006719614.4:c.8166C=	XP_006719677.1:p.Ser2722=
XM_006719616.3:c.8154C=	XP_006719679.1:p.Ser2718=
XM_011538770.2:c.8166C=	XP_011537072.1:p.Ser2722=
XM_011538771.2:c.8163C=	XP_011537073.1:p.Ser2721=
XM_011538772.2:c.8157C=	XP_011537074.1:p.Ser2719=
XM_011538773.2:c.8154C=	XP_011537075.1:p.Ser2718=
XM_011538774.2:c.8145C=	XP_011537076.1:p.Ser2715=
XM_011538776.2:c.8073C=	XP_011537078.1:p.Ser2691=
XR_001748874.1:n.9475C=
NM_003482.4:c.8157C= MANE Select	NP_003473.3:p.Ser2719=