Canonical Allele Identifier: CA2034962918

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49021989G= , CM000674.2:g.49021989G=	GRCh38
NC_000012.11:g.49415772G= , CM000674.1:g.49415772G=	GRCh37
NC_000012.10:g.47702039G=	NCBI36
NG_027827.1:g.38336C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.491+54C=
ENST00000681974.1:n.1193+54C=
ENST00000682693.1:n.2155+54C=
ENST00000682886.1:n.927+54C=
ENST00000683543.2:c.16569+54C=	ENSP00000506726.1:n.16569+54C=
ENST00000683988.1:c.492+54C=	ENSP00000506939.1:n.492+54C=
ENST00000684428.1:c.1168C=	ENSP00000507433.1:n.1168C=
ENST00000685024.1:c.1675+54C=
ENST00000685166.1:c.16530+54C=	ENSP00000509386.1:n.16530+54C=
ENST00000691932.1:c.522+54C=	ENSP00000509037.1:n.522+54C=
ENST00000692637.1:c.16518+54C=	ENSP00000509666.1:n.16518+54C=
ENST00000301067.12:c.16521+54C= MANE Select	ENSP00000301067.7:n.16521+54C=
ENST00000301067.11:c.16521+54C=	ENSP00000301067.7:n.16521+54C=
ENST00000526209.1:c.564+54C=	ENSP00000435714.1:n.564+54C=
NM_003482.3:c.16521+54C=	NP_003473.3:n.16521+54C=
XM_005269162.3:c.16521+54C=	XP_005269219.1:n.16521+54C=
XM_006719614.2:c.16530+54C=	XP_006719677.1:n.16530+54C=
XM_006719616.2:c.16518+54C=	XP_006719679.1:n.16518+54C=
XM_011538770.1:c.16578+54C=	XP_011537072.1:n.16578+54C=
XM_011538771.1:c.16575+54C=	XP_011537073.1:n.16575+54C=
XM_011538772.1:c.16569+54C=	XP_011537074.1:n.16569+54C=
XM_011538773.1:c.16566+54C=	XP_011537075.1:n.16566+54C=
XM_011538774.1:c.16557+54C=	XP_011537076.1:n.16557+54C=
XM_011538775.1:c.16512+54C=	XP_011537077.1:n.16512+54C=
XM_011538776.1:c.16485+54C=	XP_011537078.1:n.16485+54C=
XM_005269162.4:c.16521+54C=	XP_005269219.1:n.16521+54C=
XM_006719614.4:c.16530+54C=	XP_006719677.1:n.16530+54C=
XM_006719616.3:c.16518+54C=	XP_006719679.1:n.16518+54C=
XM_011538770.2:c.16578+54C=	XP_011537072.1:n.16578+54C=
XM_011538771.2:c.16575+54C=	XP_011537073.1:n.16575+54C=
XM_011538772.2:c.16569+54C=	XP_011537074.1:n.16569+54C=
XM_011538773.2:c.16566+54C=	XP_011537075.1:n.16566+54C=
XM_011538774.2:c.16557+54C=	XP_011537076.1:n.16557+54C=
XM_011538776.2:c.16485+54C=	XP_011537078.1:n.16485+54C=
XR_001748874.1:n.16698+54C=
NM_003482.4:c.16521+54C= MANE Select	NP_003473.3:n.16521+54C=