Canonical Allele Identifier: CA2034959341

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039387A= , CM000674.2:g.49039387A=	GRCh38
NC_000012.11:g.49433170A= , CM000674.1:g.49433170A=	GRCh37
NC_000012.10:g.47719437A=	NCBI36
NG_027827.1:g.20938T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8230-29T=	ENSP00000506726.1:n.8230-29T=
ENST00000685166.1:c.8239-29T=	ENSP00000509386.1:n.8239-29T=
ENST00000689060.1:c.2249-29T=
ENST00000689143.1:c.1903-29T=	ENSP00000509839.1:n.1903-29T=
ENST00000689944.1:c.2339-29T=
ENST00000692637.1:c.8227-29T=	ENSP00000509666.1:n.8227-29T=
ENST00000301067.12:c.8230-29T= MANE Select	ENSP00000301067.7:n.8230-29T=
ENST00000301067.11:c.8230-29T=	ENSP00000301067.7:n.8230-29T=
NM_003482.3:c.8230-29T=	NP_003473.3:n.8230-29T=
XM_005269162.3:c.8230-29T=	XP_005269219.1:n.8230-29T=
XM_006719614.2:c.8239-29T=	XP_006719677.1:n.8239-29T=
XM_006719616.2:c.8227-29T=	XP_006719679.1:n.8227-29T=
XM_011538770.1:c.8239-29T=	XP_011537072.1:n.8239-29T=
XM_011538771.1:c.8236-29T=	XP_011537073.1:n.8236-29T=
XM_011538772.1:c.8230-29T=	XP_011537074.1:n.8230-29T=
XM_011538773.1:c.8227-29T=	XP_011537075.1:n.8227-29T=
XM_011538774.1:c.8218-29T=	XP_011537076.1:n.8218-29T=
XM_011538775.1:c.8239-29T=	XP_011537077.1:n.8239-29T=
XM_011538776.1:c.8146-29T=	XP_011537078.1:n.8146-29T=
XR_944740.1:n.10559-29T=
XM_005269162.4:c.8230-29T=	XP_005269219.1:n.8230-29T=
XM_006719614.4:c.8239-29T=	XP_006719677.1:n.8239-29T=
XM_006719616.3:c.8227-29T=	XP_006719679.1:n.8227-29T=
XM_011538770.2:c.8239-29T=	XP_011537072.1:n.8239-29T=
XM_011538771.2:c.8236-29T=	XP_011537073.1:n.8236-29T=
XM_011538772.2:c.8230-29T=	XP_011537074.1:n.8230-29T=
XM_011538773.2:c.8227-29T=	XP_011537075.1:n.8227-29T=
XM_011538774.2:c.8218-29T=	XP_011537076.1:n.8218-29T=
XM_011538776.2:c.8146-29T=	XP_011537078.1:n.8146-29T=
XR_001748874.1:n.9548-29T=
NM_003482.4:c.8230-29T= MANE Select	NP_003473.3:n.8230-29T=