Canonical Allele Identifier: CA2034945521

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030962G= , CM000674.2:g.49030962G=	GRCh38
NC_000012.11:g.49424745G= , CM000674.1:g.49424745G=	GRCh37
NC_000012.10:g.47711012G=	NCBI36
NG_027827.1:g.29363C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.302C=
ENST00000683543.2:c.13602C=	ENSP00000506726.1:p.Ser4534=
ENST00000685166.1:c.13611C=	ENSP00000509386.1:p.Ser4537=
ENST00000685982.1:c.139-194C=	ENSP00000508613.1:n.139-194C=
ENST00000691986.1:c.138+213C=	ENSP00000509196.1:n.138+213C=
ENST00000692637.1:c.13599C=	ENSP00000509666.1:p.Ser4533=
ENST00000692973.1:c.203C=	ENSP00000508893.1:n.203C=
ENST00000301067.12:c.13602C= MANE Select	ENSP00000301067.7:p.Ser4534=
ENST00000301067.11:c.13602C=	ENSP00000301067.7:p.Ser4534=
ENST00000552391.1:n.302C=
NM_003482.3:c.13602C=	NP_003473.3:p.Ser4534=
XM_005269162.3:c.13602C=	XP_005269219.1:p.Ser4534=
XM_006719614.2:c.13611C=	XP_006719677.1:p.Ser4537=
XM_006719616.2:c.13599C=	XP_006719679.1:p.Ser4533=
XM_011538770.1:c.13611C=	XP_011537072.1:p.Ser4537=
XM_011538771.1:c.13608C=	XP_011537073.1:p.Ser4536=
XM_011538772.1:c.13602C=	XP_011537074.1:p.Ser4534=
XM_011538773.1:c.13599C=	XP_011537075.1:p.Ser4533=
XM_011538774.1:c.13590C=	XP_011537076.1:p.Ser4530=
XM_011538775.1:c.13611C=	XP_011537077.1:p.Ser4537=
XM_011538776.1:c.13518C=	XP_011537078.1:p.Ser4506=
XR_944740.1:n.15931C=
XM_005269162.4:c.13602C=	XP_005269219.1:p.Ser4534=
XM_006719614.4:c.13611C=	XP_006719677.1:p.Ser4537=
XM_006719616.3:c.13599C=	XP_006719679.1:p.Ser4533=
XM_011538770.2:c.13611C=	XP_011537072.1:p.Ser4537=
XM_011538771.2:c.13608C=	XP_011537073.1:p.Ser4536=
XM_011538772.2:c.13602C=	XP_011537074.1:p.Ser4534=
XM_011538773.2:c.13599C=	XP_011537075.1:p.Ser4533=
XM_011538774.2:c.13590C=	XP_011537076.1:p.Ser4530=
XM_011538776.2:c.13518C=	XP_011537078.1:p.Ser4506=
XR_001748874.1:n.14920C=
NM_003482.4:c.13602C= MANE Select	NP_003473.3:p.Ser4534=