Canonical Allele Identifier: CA368785450

Gene: KMT2E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105102166G>A , CM000669.2:g.105102166G>A	GRCh38
NC_000007.13:g.104742613G>A , CM000669.1:g.104742613G>A	GRCh37
NC_000007.12:g.104529849G>A	NCBI36
NG_033949.1:g.92977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473063.2:c.2168G>A	ENSP00000417156.2:p.Cys723Tyr
ENST00000478079.2:c.2168G>A	ENSP00000419525.2:p.Cys723Tyr
ENST00000479838.3:c.2168G>A	ENSP00000473963.2:p.Cys723Tyr
ENST00000257745.9:c.*807G>A	ENSP00000257745.5:n.*807G>A
ENST00000311117.8:c.2168G>A MANE Select	ENSP00000312379.3:p.Cys723Tyr
ENST00000257745.8:c.2168G>A	ENSP00000257745.4:p.Cys723Tyr
ENST00000311117.7:c.2168G>A	ENSP00000312379.3:p.Cys723Tyr
ENST00000334884.9:c.2168G>A	ENSP00000335398.5:p.Cys723Tyr
ENST00000334914.11:c.1928G>A	ENSP00000333986.8:p.Cys643Tyr
ENST00000479838.2:c.400G>A
NM_018682.3:c.2168G>A	NP_061152.3:p.Cys723Tyr
NM_182931.2:c.2168G>A	NP_891847.1:p.Cys723Tyr
XM_005250493.1:c.2168G>A	XP_005250550.1:p.Cys723Tyr
XM_006716049.1:c.2168G>A	XP_006716112.1:p.Cys723Tyr
XM_011516400.1:c.2168G>A	XP_011514702.1:p.Cys723Tyr
XR_927489.1:n.2687G>A
XM_011516400.2:c.2168G>A	XP_011514702.1:p.Cys723Tyr
XM_017012435.2:c.1730G>A	XP_016867924.1:p.Cys577Tyr
XM_024446837.1:c.2168G>A	XP_024302605.1:p.Cys723Tyr
XR_001744836.2:n.2622G>A
NM_182931.3:c.2168G>A MANE Select	NP_891847.1:p.Cys723Tyr
NM_018682.4:c.2168G>A	NP_061152.3:p.Cys723Tyr