Canonical Allele Identifier: CA4423868

Gene: KMT2E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105077070C>T , CM000669.2:g.105077070C>T	GRCh38
NC_000007.13:g.104717517C>T , CM000669.1:g.104717517C>T	GRCh37
NC_000007.12:g.104504753C>T	NCBI36
NG_033949.1:g.67881C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_182931.3:c.876C>T MANE Select	NP_891847.1:p.Tyr292=
ENST00000311117.8:c.876C>T MANE Select	ENSP00000312379.3:p.Tyr292=
NM_018682.3:c.876C>T	NP_061152.3:p.Tyr292=
NM_018682.4:c.876C>T	NP_061152.3:p.Tyr292=
NM_182931.2:c.876C>T	NP_891847.1:p.Tyr292=
ENST00000257745.8:c.876C>T	ENSP00000257745.4:p.Tyr292=
ENST00000257745.9:c.876C>T	ENSP00000257745.5:p.Tyr292=
ENST00000311117.7:c.876C>T	ENSP00000312379.3:p.Tyr292=
ENST00000334884.9:c.876C>T	ENSP00000335398.5:p.Tyr292=
ENST00000334914.11:c.876C>T	ENSP00000333986.8:p.Tyr292=
ENST00000473063.2:c.876C>T	ENSP00000417156.2:p.Tyr292=
ENST00000474203.6:c.876C>T	ENSP00000420206.2:p.Tyr292=
ENST00000476671.5:c.876C>T	ENSP00000417888.1:p.Tyr292=
ENST00000478079.2:c.876C>T	ENSP00000419525.2:p.Tyr292=
ENST00000478990.5:c.450C>T	ENSP00000419883.1:p.Tyr150=
ENST00000478990.6:c.450C>T	ENSP00000419883.2:p.Tyr150=
ENST00000479838.3:c.876C>T	ENSP00000473963.2:p.Tyr292=
ENST00000482560.6:c.*530C>T	ENSP00000417193.2:n.*530C>T
ENST00000622386.1:c.678C>T	ENSP00000482147.1:p.Tyr226=
ENST00000622386.2:c.876C>T	ENSP00000482147.2:p.Tyr292=
ENST00000667857.1:c.*230C>T	ENSP00000499735.1:n.*230C>T
XM_005250493.1:c.876C>T	XP_005250550.1:p.Tyr292=
XM_006716049.1:c.876C>T	XP_006716112.1:p.Tyr292=
XM_011516400.1:c.876C>T	XP_011514702.1:p.Tyr292=
XM_011516400.2:c.876C>T	XP_011514702.1:p.Tyr292=
XM_017012435.2:c.438C>T	XP_016867924.1:p.Tyr146=
XM_024446837.1:c.876C>T	XP_024302605.1:p.Tyr292=
XR_001744836.2:n.1330C>T
XR_927489.1:n.1395C>T