Canonical Allele Identifier: CA384682756

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711548
• MyVariant Identifiers: chr12:g.49418630C>A (hg19) ; chr12:g.49024847C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024847C>A , CM000674.2:g.49024847C>A	GRCh38
NC_000012.11:g.49418630C>A , CM000674.1:g.49418630C>A	GRCh37
NC_000012.10:g.47704897C>A	NCBI36
NG_027827.1:g.35478G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.556G>T
ENST00000683543.2:c.15884G>T	ENSP00000506726.1:p.Gly5295Val
ENST00000683863.1:n.1599G>T
ENST00000684428.1:c.419G>T	ENSP00000507433.1:p.Gly140Val
ENST00000684755.1:n.419G>T
ENST00000685024.1:c.1009G>T
ENST00000685166.1:c.15893G>T	ENSP00000509386.1:p.Gly5298Val
ENST00000688411.1:c.361G>T	ENSP00000510146.1:n.361G>T
ENST00000691463.1:c.1270G>T	ENSP00000510624.1:n.1270G>T
ENST00000692637.1:c.15881G>T	ENSP00000509666.1:p.Gly5294Val
ENST00000301067.12:c.15884G>T MANE Select	ENSP00000301067.7:p.Gly5295Val
ENST00000301067.11:c.15884G>T	ENSP00000301067.7:p.Gly5295Val
NM_003482.3:c.15884G>T	NP_003473.3:p.Gly5295Val
XM_005269162.3:c.15884G>T	XP_005269219.1:p.Gly5295Val
XM_006719614.2:c.15893G>T	XP_006719677.1:p.Gly5298Val
XM_006719616.2:c.15881G>T	XP_006719679.1:p.Gly5294Val
XM_011538770.1:c.15893G>T	XP_011537072.1:p.Gly5298Val
XM_011538771.1:c.15890G>T	XP_011537073.1:p.Gly5297Val
XM_011538772.1:c.15884G>T	XP_011537074.1:p.Gly5295Val
XM_011538773.1:c.15881G>T	XP_011537075.1:p.Gly5294Val
XM_011538774.1:c.15872G>T	XP_011537076.1:p.Gly5291Val
XM_011538775.1:c.15827G>T	XP_011537077.1:p.Gly5276Val
XM_011538776.1:c.15800G>T	XP_011537078.1:p.Gly5267Val
XR_944740.1:n.17072G>T
XM_005269162.4:c.15884G>T	XP_005269219.1:p.Gly5295Val
XM_006719614.4:c.15893G>T	XP_006719677.1:p.Gly5298Val
XM_006719616.3:c.15881G>T	XP_006719679.1:p.Gly5294Val
XM_011538770.2:c.15893G>T	XP_011537072.1:p.Gly5298Val
XM_011538771.2:c.15890G>T	XP_011537073.1:p.Gly5297Val
XM_011538772.2:c.15884G>T	XP_011537074.1:p.Gly5295Val
XM_011538773.2:c.15881G>T	XP_011537075.1:p.Gly5294Val
XM_011538774.2:c.15872G>T	XP_011537076.1:p.Gly5291Val
XM_011538776.2:c.15800G>T	XP_011537078.1:p.Gly5267Val
XR_001748874.1:n.16061G>T
NM_003482.4:c.15884G>T MANE Select	NP_003473.3:p.Gly5295Val