Canonical Allele Identifier: CA2034959517

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039497C= , CM000674.2:g.49039497C=	GRCh38
NC_000012.11:g.49433280C= , CM000674.1:g.49433280C=	GRCh37
NC_000012.10:g.47719547C=	NCBI36
NG_027827.1:g.20828G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8167G=	ENSP00000506726.1:p.Glu2723=
ENST00000685166.1:c.8176G=	ENSP00000509386.1:p.Glu2726=
ENST00000689060.1:c.2186G=
ENST00000689143.1:c.1840G=	ENSP00000509839.1:p.Glu614=
ENST00000689944.1:c.2276G=
ENST00000692637.1:c.8164G=	ENSP00000509666.1:p.Glu2722=
ENST00000301067.12:c.8167G= MANE Select	ENSP00000301067.7:p.Glu2723=
ENST00000301067.11:c.8167G=	ENSP00000301067.7:p.Glu2723=
NM_003482.3:c.8167G=	NP_003473.3:p.Glu2723=
XM_005269162.3:c.8167G=	XP_005269219.1:p.Glu2723=
XM_006719614.2:c.8176G=	XP_006719677.1:p.Glu2726=
XM_006719616.2:c.8164G=	XP_006719679.1:p.Glu2722=
XM_011538770.1:c.8176G=	XP_011537072.1:p.Glu2726=
XM_011538771.1:c.8173G=	XP_011537073.1:p.Glu2725=
XM_011538772.1:c.8167G=	XP_011537074.1:p.Glu2723=
XM_011538773.1:c.8164G=	XP_011537075.1:p.Glu2722=
XM_011538774.1:c.8155G=	XP_011537076.1:p.Glu2719=
XM_011538775.1:c.8176G=	XP_011537077.1:p.Glu2726=
XM_011538776.1:c.8083G=	XP_011537078.1:p.Glu2695=
XR_944740.1:n.10496G=
XM_005269162.4:c.8167G=	XP_005269219.1:p.Glu2723=
XM_006719614.4:c.8176G=	XP_006719677.1:p.Glu2726=
XM_006719616.3:c.8164G=	XP_006719679.1:p.Glu2722=
XM_011538770.2:c.8176G=	XP_011537072.1:p.Glu2726=
XM_011538771.2:c.8173G=	XP_011537073.1:p.Glu2725=
XM_011538772.2:c.8167G=	XP_011537074.1:p.Glu2723=
XM_011538773.2:c.8164G=	XP_011537075.1:p.Glu2722=
XM_011538774.2:c.8155G=	XP_011537076.1:p.Glu2719=
XM_011538776.2:c.8083G=	XP_011537078.1:p.Glu2695=
XR_001748874.1:n.9485G=
NM_003482.4:c.8167G= MANE Select	NP_003473.3:p.Glu2723=