Canonical Allele Identifier: CA368777637

Gene: KMT2E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105077066A>G , CM000669.2:g.105077066A>G	GRCh38
NC_000007.13:g.104717513A>G , CM000669.1:g.104717513A>G	GRCh37
NC_000007.12:g.104504749A>G	NCBI36
NG_033949.1:g.67877A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_182931.3:c.872A>G MANE Select	NP_891847.1:p.Gln291Arg
ENST00000311117.8:c.872A>G MANE Select	ENSP00000312379.3:p.Gln291Arg
NM_018682.3:c.872A>G	NP_061152.3:p.Gln291Arg
NM_018682.4:c.872A>G	NP_061152.3:p.Gln291Arg
NM_182931.2:c.872A>G	NP_891847.1:p.Gln291Arg
ENST00000257745.8:c.872A>G	ENSP00000257745.4:p.Gln291Arg
ENST00000257745.9:c.872A>G	ENSP00000257745.5:p.Gln291Arg
ENST00000311117.7:c.872A>G	ENSP00000312379.3:p.Gln291Arg
ENST00000334884.9:c.872A>G	ENSP00000335398.5:p.Gln291Arg
ENST00000334914.11:c.872A>G	ENSP00000333986.8:p.Gln291Arg
ENST00000473063.2:c.872A>G	ENSP00000417156.2:p.Gln291Arg
ENST00000474203.6:c.872A>G	ENSP00000420206.2:p.Gln291Arg
ENST00000476671.5:c.872A>G	ENSP00000417888.1:p.Gln291Arg
ENST00000478079.2:c.872A>G	ENSP00000419525.2:p.Gln291Arg
ENST00000478990.5:c.446A>G	ENSP00000419883.1:p.Gln149Arg
ENST00000478990.6:c.446A>G	ENSP00000419883.2:p.Gln149Arg
ENST00000479838.3:c.872A>G	ENSP00000473963.2:p.Gln291Arg
ENST00000482560.6:c.*526A>G	ENSP00000417193.2:n.*526A>G
ENST00000622386.1:c.674A>G	ENSP00000482147.1:p.Gln225Arg
ENST00000622386.2:c.872A>G	ENSP00000482147.2:p.Gln291Arg
ENST00000667857.1:c.*226A>G	ENSP00000499735.1:n.*226A>G
XM_005250493.1:c.872A>G	XP_005250550.1:p.Gln291Arg
XM_006716049.1:c.872A>G	XP_006716112.1:p.Gln291Arg
XM_011516400.1:c.872A>G	XP_011514702.1:p.Gln291Arg
XM_011516400.2:c.872A>G	XP_011514702.1:p.Gln291Arg
XM_017012435.2:c.434A>G	XP_016867924.1:p.Gln145Arg
XM_024446837.1:c.872A>G	XP_024302605.1:p.Gln291Arg
XR_001744836.2:n.1326A>G
XR_927489.1:n.1391A>G