Canonical Allele Identifier: CA382830741

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118484889G>T , CM000673.2:g.118484889G>T	GRCh38
NC_000011.9:g.118355604G>T , CM000673.1:g.118355604G>T	GRCh37
NC_000011.8:g.117860814G>T	NCBI36
NG_027813.1:g.53400G>T , LRG_613:g.53400G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.4246G>T MANE Select	NP_001184033.1:p.Glu1416Ter
ENST00000534358.8:c.4246G>T MANE Select	ENSP00000436786.2:p.Glu1416Ter
NM_001197104.1:c.4246G>T , LRG_613t1:c.4246G>T	NP_001184033.1:p.Glu1416Ter
NM_005933.3:c.4246G>T	NP_005924.2:p.Glu1416Ter
NM_005933.4:c.4246G>T	NP_005924.2:p.Glu1416Ter
ENST00000389506.10:c.4246G>T	ENSP00000374157.5:p.Glu1416Ter
ENST00000389506.9:c.4246G>T	ENSP00000374157.5:p.Glu1416Ter
ENST00000392873.3:c.468+575G>T	ENSP00000376612.3:n.468+575G>T
ENST00000420751.4:c.157G>T	ENSP00000510776.1:p.Glu53Ter
ENST00000531904.7:c.4345G>T	ENSP00000432391.3:p.Glu1449Ter
ENST00000534358.5:c.4246G>T	ENSP00000436786.1:p.Glu1416Ter
ENST00000649699.1:c.4218+575G>T	ENSP00000496927.1:n.4218+575G>T
ENST00000685498.1:c.25G>T	ENSP00000509293.1:p.Glu9Ter
ENST00000685719.1:c.1153G>T
ENST00000691053.1:c.4246G>T	ENSP00000509168.1:p.Glu1416Ter
ENST00000710560.1:c.4345G>T	ENSP00000518343.1:p.Glu1449Ter
XM_006718839.2:c.1729G>T	XP_006718902.2:p.Glu577Ter
XM_006718839.3:c.1729G>T	XP_006718902.2:p.Glu577Ter
XM_011542829.1:c.4345G>T	XP_011541131.1:p.Glu1449Ter
XM_011542829.2:c.4345G>T	XP_011541131.1:p.Glu1449Ter
XM_011542830.1:c.4345G>T	XP_011541132.1:p.Glu1449Ter
XM_011542830.2:c.4345G>T	XP_011541132.1:p.Glu1449Ter
XM_011542831.1:c.4345G>T	XP_011541133.1:p.Glu1449Ter
XM_011542831.2:c.4345G>T	XP_011541133.1:p.Glu1449Ter
XM_011542832.1:c.2152G>T	XP_011541134.1:p.Glu718Ter
XM_011542833.1:c.1828G>T	XP_011541135.1:p.Glu610Ter
XM_011542833.2:c.1828G>T	XP_011541135.1:p.Glu610Ter