Canonical Allele Identifier: CA2034946651

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033106G= , CM000674.2:g.49033106G=	GRCh38
NC_000012.11:g.49426889G= , CM000674.1:g.49426889G=	GRCh37
NC_000012.10:g.47713156G=	NCBI36
NG_027827.1:g.27219C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11599C=	ENSP00000506726.1:p.Gln3867=
ENST00000685166.1:c.11608C=	ENSP00000509386.1:p.Gln3870=
ENST00000685554.1:c.1159C=	ENSP00000508640.1:p.Gln387=
ENST00000687201.1:c.3178C=	ENSP00000510037.1:p.Gln1060=
ENST00000692637.1:c.11596C=	ENSP00000509666.1:p.Gln3866=
ENST00000692841.1:c.3078C=	ENSP00000508711.1:n.3078C=
ENST00000301067.12:c.11599C= MANE Select	ENSP00000301067.7:p.Gln3867=
ENST00000301067.11:c.11599C=	ENSP00000301067.7:p.Gln3867=
NM_003482.3:c.11599C=	NP_003473.3:p.Gln3867=
XM_005269162.3:c.11599C=	XP_005269219.1:p.Gln3867=
XM_006719614.2:c.11608C=	XP_006719677.1:p.Gln3870=
XM_006719616.2:c.11596C=	XP_006719679.1:p.Gln3866=
XM_011538770.1:c.11608C=	XP_011537072.1:p.Gln3870=
XM_011538771.1:c.11605C=	XP_011537073.1:p.Gln3869=
XM_011538772.1:c.11599C=	XP_011537074.1:p.Gln3867=
XM_011538773.1:c.11596C=	XP_011537075.1:p.Gln3866=
XM_011538774.1:c.11587C=	XP_011537076.1:p.Gln3863=
XM_011538775.1:c.11608C=	XP_011537077.1:p.Gln3870=
XM_011538776.1:c.11515C=	XP_011537078.1:p.Gln3839=
XR_944740.1:n.13928C=
XM_005269162.4:c.11599C=	XP_005269219.1:p.Gln3867=
XM_006719614.4:c.11608C=	XP_006719677.1:p.Gln3870=
XM_006719616.3:c.11596C=	XP_006719679.1:p.Gln3866=
XM_011538770.2:c.11608C=	XP_011537072.1:p.Gln3870=
XM_011538771.2:c.11605C=	XP_011537073.1:p.Gln3869=
XM_011538772.2:c.11599C=	XP_011537074.1:p.Gln3867=
XM_011538773.2:c.11596C=	XP_011537075.1:p.Gln3866=
XM_011538774.2:c.11587C=	XP_011537076.1:p.Gln3863=
XM_011538776.2:c.11515C=	XP_011537078.1:p.Gln3839=
XR_001748874.1:n.12917C=
NM_003482.4:c.11599C= MANE Select	NP_003473.3:p.Gln3867=