Canonical Allele Identifier: CA384676242

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022122C>T , CM000674.2:g.49022122C>T	GRCh38
NC_000012.11:g.49415905C>T , CM000674.1:g.49415905C>T	GRCh37
NC_000012.10:g.47702172C>T	NCBI36
NG_027827.1:g.38203G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16442G>A MANE Select	NP_003473.3:p.Cys5481Tyr
ENST00000301067.12:c.16442G>A MANE Select	ENSP00000301067.7:p.Cys5481Tyr
NM_003482.3:c.16442G>A	NP_003473.3:p.Cys5481Tyr
ENST00000301067.11:c.16442G>A	ENSP00000301067.7:p.Cys5481Tyr
ENST00000526209.1:c.485G>A	ENSP00000435714.1:p.Cys162Tyr
ENST00000526209.2:c.412G>A
ENST00000681974.1:n.1114G>A
ENST00000682693.1:n.2076G>A
ENST00000682886.1:n.848G>A
ENST00000683543.2:c.16490G>A	ENSP00000506726.1:p.Cys5497Tyr
ENST00000683988.1:c.413G>A	ENSP00000506939.1:p.Cys138Tyr
ENST00000684428.1:c.1035G>A	ENSP00000507433.1:n.1035G>A
ENST00000685024.1:c.1596G>A
ENST00000685166.1:c.16451G>A	ENSP00000509386.1:p.Cys5484Tyr
ENST00000691932.1:c.443G>A	ENSP00000509037.1:p.Cys148Tyr
ENST00000692637.1:c.16439G>A	ENSP00000509666.1:p.Cys5480Tyr
XM_005269162.3:c.16442G>A	XP_005269219.1:p.Cys5481Tyr
XM_005269162.4:c.16442G>A	XP_005269219.1:p.Cys5481Tyr
XM_006719614.2:c.16451G>A	XP_006719677.1:p.Cys5484Tyr
XM_006719614.4:c.16451G>A	XP_006719677.1:p.Cys5484Tyr
XM_006719616.2:c.16439G>A	XP_006719679.1:p.Cys5480Tyr
XM_006719616.3:c.16439G>A	XP_006719679.1:p.Cys5480Tyr
XM_011538770.1:c.16499G>A	XP_011537072.1:p.Cys5500Tyr
XM_011538770.2:c.16499G>A	XP_011537072.1:p.Cys5500Tyr
XM_011538771.1:c.16496G>A	XP_011537073.1:p.Cys5499Tyr
XM_011538771.2:c.16496G>A	XP_011537073.1:p.Cys5499Tyr
XM_011538772.1:c.16490G>A	XP_011537074.1:p.Cys5497Tyr
XM_011538772.2:c.16490G>A	XP_011537074.1:p.Cys5497Tyr
XM_011538773.1:c.16487G>A	XP_011537075.1:p.Cys5496Tyr
XM_011538773.2:c.16487G>A	XP_011537075.1:p.Cys5496Tyr
XM_011538774.1:c.16478G>A	XP_011537076.1:p.Cys5493Tyr
XM_011538774.2:c.16478G>A	XP_011537076.1:p.Cys5493Tyr
XM_011538775.1:c.16433G>A	XP_011537077.1:p.Cys5478Tyr
XM_011538776.1:c.16406G>A	XP_011537078.1:p.Cys5469Tyr
XM_011538776.2:c.16406G>A	XP_011537078.1:p.Cys5469Tyr
XR_001748874.1:n.16619G>A