Canonical Allele Identifier: CA368774456

Gene: KMT2E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105063406C>T , CM000669.2:g.105063406C>T	GRCh38
NC_000007.13:g.104703853C>T , CM000669.1:g.104703853C>T	GRCh37
NC_000007.12:g.104491089C>T	NCBI36
NG_033949.1:g.54217C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_182931.3:c.242C>T MANE Select	NP_891847.1:p.Ser81Leu
ENST00000311117.8:c.242C>T MANE Select	ENSP00000312379.3:p.Ser81Leu
NM_018682.3:c.242C>T	NP_061152.3:p.Ser81Leu
NM_018682.4:c.242C>T	NP_061152.3:p.Ser81Leu
NM_182931.2:c.242C>T	NP_891847.1:p.Ser81Leu
ENST00000257745.8:c.242C>T	ENSP00000257745.4:p.Ser81Leu
ENST00000257745.9:c.242C>T	ENSP00000257745.5:p.Ser81Leu
ENST00000311117.7:c.242C>T	ENSP00000312379.3:p.Ser81Leu
ENST00000334884.9:c.242C>T	ENSP00000335398.5:p.Ser81Leu
ENST00000334914.11:c.242C>T	ENSP00000333986.8:p.Ser81Leu
ENST00000468607.1:n.137C>T
ENST00000473063.2:c.242C>T	ENSP00000417156.2:p.Ser81Leu
ENST00000474203.6:c.242C>T	ENSP00000420206.2:p.Ser81Leu
ENST00000476671.5:c.242C>T	ENSP00000417888.1:p.Ser81Leu
ENST00000478079.2:c.242C>T	ENSP00000419525.2:p.Ser81Leu
ENST00000478990.5:c.72-10213C>T	ENSP00000419883.1:n.72-10213C>T
ENST00000478990.6:c.72-10213C>T	ENSP00000419883.2:n.72-10213C>T
ENST00000479838.3:c.242C>T	ENSP00000473963.2:p.Ser81Leu
ENST00000482560.6:c.242C>T	ENSP00000417193.2:p.Ser81Leu
ENST00000495267.5:c.242C>T	ENSP00000420415.1:p.Ser81Leu
ENST00000622386.1:c.44C>T	ENSP00000482147.1:p.Ser15Leu
ENST00000622386.2:c.242C>T	ENSP00000482147.2:p.Ser81Leu
ENST00000667857.1:c.242C>T	ENSP00000499735.1:p.Ser81Leu
ENST00000700336.1:c.*223C>T	ENSP00000514954.1:n.*223C>T
ENST00000700500.1:n.687C>T
XM_005250493.1:c.242C>T	XP_005250550.1:p.Ser81Leu
XM_006716049.1:c.242C>T	XP_006716112.1:p.Ser81Leu
XM_011516400.1:c.242C>T	XP_011514702.1:p.Ser81Leu
XM_011516400.2:c.242C>T	XP_011514702.1:p.Ser81Leu
XM_017012435.2:c.-286C>T	XP_016867924.1:n.-286C>T
XM_024446837.1:c.242C>T	XP_024302605.1:p.Ser81Leu
XR_001744836.2:n.696C>T
XR_927489.1:n.761C>T