Canonical Allele Identifier: CA2034945495

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030904G= , CM000674.2:g.49030904G=	GRCh38
NC_000012.11:g.49424687G= , CM000674.1:g.49424687G=	GRCh37
NC_000012.10:g.47710954G=	NCBI36
NG_027827.1:g.29421C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.360C=
ENST00000683543.2:c.13660C=	ENSP00000506726.1:p.Gln4554=
ENST00000685166.1:c.13669C=	ENSP00000509386.1:p.Gln4557=
ENST00000685982.1:c.139-136C=	ENSP00000508613.1:n.139-136C=
ENST00000691986.1:c.138+271C=	ENSP00000509196.1:n.138+271C=
ENST00000692637.1:c.13657C=	ENSP00000509666.1:p.Gln4553=
ENST00000692973.1:c.261C=	ENSP00000508893.1:n.261C=
ENST00000301067.12:c.13660C= MANE Select	ENSP00000301067.7:p.Gln4554=
ENST00000301067.11:c.13660C=	ENSP00000301067.7:p.Gln4554=
ENST00000552391.1:n.360C=
NM_003482.3:c.13660C=	NP_003473.3:p.Gln4554=
XM_005269162.3:c.13660C=	XP_005269219.1:p.Gln4554=
XM_006719614.2:c.13669C=	XP_006719677.1:p.Gln4557=
XM_006719616.2:c.13657C=	XP_006719679.1:p.Gln4553=
XM_011538770.1:c.13669C=	XP_011537072.1:p.Gln4557=
XM_011538771.1:c.13666C=	XP_011537073.1:p.Gln4556=
XM_011538772.1:c.13660C=	XP_011537074.1:p.Gln4554=
XM_011538773.1:c.13657C=	XP_011537075.1:p.Gln4553=
XM_011538774.1:c.13648C=	XP_011537076.1:p.Gln4550=
XM_011538775.1:c.13669C=	XP_011537077.1:p.Gln4557=
XM_011538776.1:c.13576C=	XP_011537078.1:p.Gln4526=
XR_944740.1:n.15989C=
XM_005269162.4:c.13660C=	XP_005269219.1:p.Gln4554=
XM_006719614.4:c.13669C=	XP_006719677.1:p.Gln4557=
XM_006719616.3:c.13657C=	XP_006719679.1:p.Gln4553=
XM_011538770.2:c.13669C=	XP_011537072.1:p.Gln4557=
XM_011538771.2:c.13666C=	XP_011537073.1:p.Gln4556=
XM_011538772.2:c.13660C=	XP_011537074.1:p.Gln4554=
XM_011538773.2:c.13657C=	XP_011537075.1:p.Gln4553=
XM_011538774.2:c.13648C=	XP_011537076.1:p.Gln4550=
XM_011538776.2:c.13576C=	XP_011537078.1:p.Gln4526=
XR_001748874.1:n.14978C=
NM_003482.4:c.13660C= MANE Select	NP_003473.3:p.Gln4554=