Canonical Allele Identifier: CA384689428

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49026795C>T , CM000674.2:g.49026795C>T	GRCh38
NC_000012.11:g.49420578C>T , CM000674.1:g.49420578C>T	GRCh37
NC_000012.10:g.47706845C>T	NCBI36
NG_027827.1:g.33530G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.15171G>A MANE Select	NP_003473.3:p.Trp5057Ter
ENST00000301067.12:c.15171G>A MANE Select	ENSP00000301067.7:p.Trp5057Ter
NM_003482.3:c.15171G>A	NP_003473.3:p.Trp5057Ter
ENST00000301067.11:c.15171G>A	ENSP00000301067.7:p.Trp5057Ter
ENST00000683543.2:c.15171G>A	ENSP00000506726.1:p.Trp5057Ter
ENST00000685024.1:c.296G>A
ENST00000685166.1:c.15180G>A	ENSP00000509386.1:p.Trp5060Ter
ENST00000688411.1:c.261+1008G>A	ENSP00000510146.1:n.261+1008G>A
ENST00000691463.1:c.557G>A	ENSP00000510624.1:n.557G>A
ENST00000692637.1:c.15168G>A	ENSP00000509666.1:p.Trp5056Ter
XM_005269162.3:c.15171G>A	XP_005269219.1:p.Trp5057Ter
XM_005269162.4:c.15171G>A	XP_005269219.1:p.Trp5057Ter
XM_006719614.2:c.15180G>A	XP_006719677.1:p.Trp5060Ter
XM_006719614.4:c.15180G>A	XP_006719677.1:p.Trp5060Ter
XM_006719616.2:c.15168G>A	XP_006719679.1:p.Trp5056Ter
XM_006719616.3:c.15168G>A	XP_006719679.1:p.Trp5056Ter
XM_011538770.1:c.15180G>A	XP_011537072.1:p.Trp5060Ter
XM_011538770.2:c.15180G>A	XP_011537072.1:p.Trp5060Ter
XM_011538771.1:c.15177G>A	XP_011537073.1:p.Trp5059Ter
XM_011538771.2:c.15177G>A	XP_011537073.1:p.Trp5059Ter
XM_011538772.1:c.15171G>A	XP_011537074.1:p.Trp5057Ter
XM_011538772.2:c.15171G>A	XP_011537074.1:p.Trp5057Ter
XM_011538773.1:c.15168G>A	XP_011537075.1:p.Trp5056Ter
XM_011538773.2:c.15168G>A	XP_011537075.1:p.Trp5056Ter
XM_011538774.1:c.15159G>A	XP_011537076.1:p.Trp5053Ter
XM_011538774.2:c.15159G>A	XP_011537076.1:p.Trp5053Ter
XM_011538775.1:c.15114G>A	XP_011537077.1:p.Trp5038Ter
XM_011538776.1:c.15087G>A	XP_011537078.1:p.Trp5029Ter
XM_011538776.2:c.15087G>A	XP_011537078.1:p.Trp5029Ter
XR_001748874.1:n.15961+1008G>A
XR_944740.1:n.16972+1008G>A