Canonical Allele Identifier: CA384682822

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711621
• MyVariant Identifiers: chr12:g.49418639T>A (hg19) ; chr12:g.49024856T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024856T>A , CM000674.2:g.49024856T>A	GRCh38
NC_000012.11:g.49418639T>A , CM000674.1:g.49418639T>A	GRCh37
NC_000012.10:g.47704906T>A	NCBI36
NG_027827.1:g.35469A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.547A>T
ENST00000683543.2:c.15875A>T	ENSP00000506726.1:p.Glu5292Val
ENST00000683863.1:n.1590A>T
ENST00000684428.1:c.410A>T	ENSP00000507433.1:p.Glu137Val
ENST00000684755.1:n.410A>T
ENST00000685024.1:c.1000A>T
ENST00000685166.1:c.15884A>T	ENSP00000509386.1:p.Glu5295Val
ENST00000688411.1:c.352A>T	ENSP00000510146.1:n.352A>T
ENST00000691463.1:c.1261A>T	ENSP00000510624.1:n.1261A>T
ENST00000692637.1:c.15872A>T	ENSP00000509666.1:p.Glu5291Val
ENST00000301067.12:c.15875A>T MANE Select	ENSP00000301067.7:p.Glu5292Val
ENST00000301067.11:c.15875A>T	ENSP00000301067.7:p.Glu5292Val
NM_003482.3:c.15875A>T	NP_003473.3:p.Glu5292Val
XM_005269162.3:c.15875A>T	XP_005269219.1:p.Glu5292Val
XM_006719614.2:c.15884A>T	XP_006719677.1:p.Glu5295Val
XM_006719616.2:c.15872A>T	XP_006719679.1:p.Glu5291Val
XM_011538770.1:c.15884A>T	XP_011537072.1:p.Glu5295Val
XM_011538771.1:c.15881A>T	XP_011537073.1:p.Glu5294Val
XM_011538772.1:c.15875A>T	XP_011537074.1:p.Glu5292Val
XM_011538773.1:c.15872A>T	XP_011537075.1:p.Glu5291Val
XM_011538774.1:c.15863A>T	XP_011537076.1:p.Glu5288Val
XM_011538775.1:c.15818A>T	XP_011537077.1:p.Glu5273Val
XM_011538776.1:c.15791A>T	XP_011537078.1:p.Glu5264Val
XR_944740.1:n.17063A>T
XM_005269162.4:c.15875A>T	XP_005269219.1:p.Glu5292Val
XM_006719614.4:c.15884A>T	XP_006719677.1:p.Glu5295Val
XM_006719616.3:c.15872A>T	XP_006719679.1:p.Glu5291Val
XM_011538770.2:c.15884A>T	XP_011537072.1:p.Glu5295Val
XM_011538771.2:c.15881A>T	XP_011537073.1:p.Glu5294Val
XM_011538772.2:c.15875A>T	XP_011537074.1:p.Glu5292Val
XM_011538773.2:c.15872A>T	XP_011537075.1:p.Glu5291Val
XM_011538774.2:c.15863A>T	XP_011537076.1:p.Glu5288Val
XM_011538776.2:c.15791A>T	XP_011537078.1:p.Glu5264Val
XR_001748874.1:n.16052A>T
NM_003482.4:c.15875A>T MANE Select	NP_003473.3:p.Glu5292Val