Canonical Allele Identifier: CA384742399

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49038955G>A , CM000674.2:g.49038955G>A	GRCh38
NC_000012.11:g.49432738G>A , CM000674.1:g.49432738G>A	GRCh37
NC_000012.10:g.47719005G>A	NCBI36
NG_027827.1:g.21370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.100C>T
ENST00000683543.2:c.8401C>T	ENSP00000506726.1:p.Arg2801Ter
ENST00000685166.1:c.8410C>T	ENSP00000509386.1:p.Arg2804Ter
ENST00000689143.1:c.2040-36C>T	ENSP00000509839.1:n.2040-36C>T
ENST00000692637.1:c.8398C>T	ENSP00000509666.1:p.Arg2800Ter
ENST00000301067.12:c.8401C>T MANE Select	ENSP00000301067.7:p.Arg2801Ter
ENST00000301067.11:c.8401C>T	ENSP00000301067.7:p.Arg2801Ter
ENST00000549799.1:n.79-36C>T
NM_003482.3:c.8401C>T	NP_003473.3:p.Arg2801Ter
XM_005269162.3:c.8401C>T	XP_005269219.1:p.Arg2801Ter
XM_006719614.2:c.8410C>T	XP_006719677.1:p.Arg2804Ter
XM_006719616.2:c.8398C>T	XP_006719679.1:p.Arg2800Ter
XM_011538770.1:c.8410C>T	XP_011537072.1:p.Arg2804Ter
XM_011538771.1:c.8407C>T	XP_011537073.1:p.Arg2803Ter
XM_011538772.1:c.8401C>T	XP_011537074.1:p.Arg2801Ter
XM_011538773.1:c.8398C>T	XP_011537075.1:p.Arg2800Ter
XM_011538774.1:c.8389C>T	XP_011537076.1:p.Arg2797Ter
XM_011538775.1:c.8410C>T	XP_011537077.1:p.Arg2804Ter
XM_011538776.1:c.8317C>T	XP_011537078.1:p.Arg2773Ter
XR_944740.1:n.10730C>T
XM_005269162.4:c.8401C>T	XP_005269219.1:p.Arg2801Ter
XM_006719614.4:c.8410C>T	XP_006719677.1:p.Arg2804Ter
XM_006719616.3:c.8398C>T	XP_006719679.1:p.Arg2800Ter
XM_011538770.2:c.8410C>T	XP_011537072.1:p.Arg2804Ter
XM_011538771.2:c.8407C>T	XP_011537073.1:p.Arg2803Ter
XM_011538772.2:c.8401C>T	XP_011537074.1:p.Arg2801Ter
XM_011538773.2:c.8398C>T	XP_011537075.1:p.Arg2800Ter
XM_011538774.2:c.8389C>T	XP_011537076.1:p.Arg2797Ter
XM_011538776.2:c.8317C>T	XP_011537078.1:p.Arg2773Ter
XR_001748874.1:n.9719C>T
NM_003482.4:c.8401C>T MANE Select	NP_003473.3:p.Arg2801Ter