Canonical Allele Identifier: CA368778775

Gene: KMT2E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105077435T>C , CM000669.2:g.105077435T>C	GRCh38
NC_000007.13:g.104717882T>C , CM000669.1:g.104717882T>C	GRCh37
NC_000007.12:g.104505118T>C	NCBI36
NG_033949.1:g.68246T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182931.3:c.1130+2T>C MANE Select	NP_891847.1:n.1130+2T>C
ENST00000311117.8:c.1130+2T>C MANE Select	ENSP00000312379.3:n.1130+2T>C
NM_018682.3:c.1130+2T>C	NP_061152.3:n.1130+2T>C
NM_018682.4:c.1130+2T>C	NP_061152.3:n.1130+2T>C
NM_182931.2:c.1130+2T>C	NP_891847.1:n.1130+2T>C
ENST00000257745.8:c.1130+2T>C	ENSP00000257745.4:n.1130+2T>C
ENST00000257745.9:c.1130+2T>C	ENSP00000257745.5:n.1130+2T>C
ENST00000311117.7:c.1130+2T>C	ENSP00000312379.3:n.1130+2T>C
ENST00000334884.9:c.1130+2T>C	ENSP00000335398.5:n.1130+2T>C
ENST00000334914.11:c.1130+2T>C	ENSP00000333986.8:n.1130+2T>C
ENST00000473063.2:c.1130+2T>C	ENSP00000417156.2:n.1130+2T>C
ENST00000474203.6:c.1130+2T>C	ENSP00000420206.2:n.1130+2T>C
ENST00000476671.5:c.1130+2T>C	ENSP00000417888.1:n.1130+2T>C
ENST00000478079.2:c.1130+2T>C	ENSP00000419525.2:n.1130+2T>C
ENST00000478990.5:c.704+2T>C	ENSP00000419883.1:n.704+2T>C
ENST00000478990.6:c.704+2T>C	ENSP00000419883.2:n.704+2T>C
ENST00000479838.3:c.1130+2T>C	ENSP00000473963.2:n.1130+2T>C
ENST00000482560.6:c.*784+2T>C	ENSP00000417193.2:n.*784+2T>C
ENST00000496191.1:n.211T>C
ENST00000622386.1:c.932+2T>C	ENSP00000482147.1:n.932+2T>C
ENST00000667857.1:c.*484+2T>C	ENSP00000499735.1:n.*484+2T>C
XM_005250493.1:c.1130+2T>C	XP_005250550.1:n.1130+2T>C
XM_006716049.1:c.1130+2T>C	XP_006716112.1:n.1130+2T>C
XM_011516400.1:c.1130+2T>C	XP_011514702.1:n.1130+2T>C
XM_011516400.2:c.1130+2T>C	XP_011514702.1:n.1130+2T>C
XM_017012435.2:c.692+2T>C	XP_016867924.1:n.692+2T>C
XM_024446837.1:c.1130+2T>C	XP_024302605.1:n.1130+2T>C
XR_001744836.2:n.1584+2T>C
XR_927489.1:n.1649+2T>C