Canonical Allele Identifier: CA2034959096

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039260A= , CM000674.2:g.49039260A=	GRCh38
NC_000012.11:g.49433043A= , CM000674.1:g.49433043A=	GRCh37
NC_000012.10:g.47719310A=	NCBI36
NG_027827.1:g.21065T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.27T=
ENST00000683543.2:c.8328T=	ENSP00000506726.1:p.Pro2776=
ENST00000685166.1:c.8337T=	ENSP00000509386.1:p.Pro2779=
ENST00000689060.1:c.2347T=
ENST00000689143.1:c.2001T=	ENSP00000509839.1:p.Pro667=
ENST00000689944.1:c.2437T=
ENST00000692637.1:c.8325T=	ENSP00000509666.1:p.Pro2775=
ENST00000301067.12:c.8328T= MANE Select	ENSP00000301067.7:p.Pro2776=
ENST00000301067.11:c.8328T=	ENSP00000301067.7:p.Pro2776=
ENST00000549799.1:n.40T=
NM_003482.3:c.8328T=	NP_003473.3:p.Pro2776=
XM_005269162.3:c.8328T=	XP_005269219.1:p.Pro2776=
XM_006719614.2:c.8337T=	XP_006719677.1:p.Pro2779=
XM_006719616.2:c.8325T=	XP_006719679.1:p.Pro2775=
XM_011538770.1:c.8337T=	XP_011537072.1:p.Pro2779=
XM_011538771.1:c.8334T=	XP_011537073.1:p.Pro2778=
XM_011538772.1:c.8328T=	XP_011537074.1:p.Pro2776=
XM_011538773.1:c.8325T=	XP_011537075.1:p.Pro2775=
XM_011538774.1:c.8316T=	XP_011537076.1:p.Pro2772=
XM_011538775.1:c.8337T=	XP_011537077.1:p.Pro2779=
XM_011538776.1:c.8244T=	XP_011537078.1:p.Pro2748=
XR_944740.1:n.10657T=
XM_005269162.4:c.8328T=	XP_005269219.1:p.Pro2776=
XM_006719614.4:c.8337T=	XP_006719677.1:p.Pro2779=
XM_006719616.3:c.8325T=	XP_006719679.1:p.Pro2775=
XM_011538770.2:c.8337T=	XP_011537072.1:p.Pro2779=
XM_011538771.2:c.8334T=	XP_011537073.1:p.Pro2778=
XM_011538772.2:c.8328T=	XP_011537074.1:p.Pro2776=
XM_011538773.2:c.8325T=	XP_011537075.1:p.Pro2775=
XM_011538774.2:c.8316T=	XP_011537076.1:p.Pro2772=
XM_011538776.2:c.8244T=	XP_011537078.1:p.Pro2748=
XR_001748874.1:n.9646T=
NM_003482.4:c.8328T= MANE Select	NP_003473.3:p.Pro2776=