Canonical Allele Identifier: CA6545334

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49021828C>T , CM000674.2:g.49021828C>T	GRCh38
NC_000012.11:g.49415611C>T , CM000674.1:g.49415611C>T	GRCh37
NC_000012.10:g.47701878C>T	NCBI36
NG_027827.1:g.38497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.536G>A
ENST00000681974.1:n.1238G>A
ENST00000682693.1:n.2200G>A
ENST00000682886.1:n.972G>A
ENST00000683543.2:c.16614G>A	ENSP00000506726.1:p.Lys5538=
ENST00000683988.1:c.537G>A	ENSP00000506939.1:p.Lys179=
ENST00000684428.1:c.1329G>A	ENSP00000507433.1:n.1329G>A
ENST00000685024.1:c.1720G>A
ENST00000685166.1:c.16575G>A	ENSP00000509386.1:p.Lys5525=
ENST00000691932.1:c.567G>A	ENSP00000509037.1:p.Lys189=
ENST00000692637.1:c.16563G>A	ENSP00000509666.1:p.Lys5521=
ENST00000301067.12:c.16566G>A MANE Select	ENSP00000301067.7:p.Lys5522=
ENST00000301067.11:c.16566G>A	ENSP00000301067.7:p.Lys5522=
ENST00000526209.1:c.609G>A	ENSP00000435714.1:p.Lys203=
NM_003482.3:c.16566G>A	NP_003473.3:p.Lys5522=
XM_005269162.3:c.16566G>A	XP_005269219.1:p.Lys5522=
XM_006719614.2:c.16575G>A	XP_006719677.1:p.Lys5525=
XM_006719616.2:c.16563G>A	XP_006719679.1:p.Lys5521=
XM_011538770.1:c.16623G>A	XP_011537072.1:p.Lys5541=
XM_011538771.1:c.16620G>A	XP_011537073.1:p.Lys5540=
XM_011538772.1:c.16614G>A	XP_011537074.1:p.Lys5538=
XM_011538773.1:c.16611G>A	XP_011537075.1:p.Lys5537=
XM_011538774.1:c.16602G>A	XP_011537076.1:p.Lys5534=
XM_011538775.1:c.16557G>A	XP_011537077.1:p.Lys5519=
XM_011538776.1:c.16530G>A	XP_011537078.1:p.Lys5510=
XM_005269162.4:c.16566G>A	XP_005269219.1:p.Lys5522=
XM_006719614.4:c.16575G>A	XP_006719677.1:p.Lys5525=
XM_006719616.3:c.16563G>A	XP_006719679.1:p.Lys5521=
XM_011538770.2:c.16623G>A	XP_011537072.1:p.Lys5541=
XM_011538771.2:c.16620G>A	XP_011537073.1:p.Lys5540=
XM_011538772.2:c.16614G>A	XP_011537074.1:p.Lys5538=
XM_011538773.2:c.16611G>A	XP_011537075.1:p.Lys5537=
XM_011538774.2:c.16602G>A	XP_011537076.1:p.Lys5534=
XM_011538776.2:c.16530G>A	XP_011537078.1:p.Lys5510=
XR_001748874.1:n.16743G>A
NM_003482.4:c.16566G>A MANE Select	NP_003473.3:p.Lys5522=