Canonical Allele Identifier: CA382798964

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118498502C>T , CM000673.2:g.118498502C>T	GRCh38
NC_000011.9:g.118369217C>T , CM000673.1:g.118369217C>T	GRCh37
NC_000011.8:g.117874427C>T	NCBI36
NG_027813.1:g.67013C>T , LRG_613:g.67013C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.5935C>T MANE Select	NP_001184033.1:p.Arg1979Ter
ENST00000534358.8:c.5935C>T MANE Select	ENSP00000436786.2:p.Arg1979Ter
NM_001197104.1:c.5935C>T , LRG_613t1:c.5935C>T	NP_001184033.1:p.Arg1979Ter
NM_005933.3:c.5926C>T	NP_005924.2:p.Arg1976Ter
NM_005933.4:c.5926C>T	NP_005924.2:p.Arg1976Ter
ENST00000389506.10:c.5926C>T	ENSP00000374157.5:p.Arg1976Ter
ENST00000389506.9:c.5926C>T	ENSP00000374157.5:p.Arg1976Ter
ENST00000528278.2:n.3016C>T
ENST00000531904.7:c.6034C>T	ENSP00000432391.3:p.Arg2012Ter
ENST00000534358.5:c.5935C>T	ENSP00000436786.1:p.Arg1979Ter
ENST00000649699.1:c.5812C>T	ENSP00000496927.1:p.Arg1938Ter
ENST00000689424.1:c.258+13C>T	ENSP00000509852.1:n.258+13C>T
ENST00000691053.1:c.6007C>T	ENSP00000509168.1:p.Arg2003Ter
ENST00000710560.1:c.6025C>T	ENSP00000518343.1:p.Arg2009Ter
XM_006718839.2:c.3418C>T	XP_006718902.2:p.Arg1140Ter
XM_006718839.3:c.3418C>T	XP_006718902.2:p.Arg1140Ter
XM_011542829.1:c.6034C>T	XP_011541131.1:p.Arg2012Ter
XM_011542829.2:c.6034C>T	XP_011541131.1:p.Arg2012Ter
XM_011542830.1:c.6031C>T	XP_011541132.1:p.Arg2011Ter
XM_011542830.2:c.6031C>T	XP_011541132.1:p.Arg2011Ter
XM_011542831.1:c.6025C>T	XP_011541133.1:p.Arg2009Ter
XM_011542831.2:c.6025C>T	XP_011541133.1:p.Arg2009Ter
XM_011542832.1:c.3841C>T	XP_011541134.1:p.Arg1281Ter
XM_011542833.1:c.3517C>T	XP_011541135.1:p.Arg1173Ter
XM_011542833.2:c.3517C>T	XP_011541135.1:p.Arg1173Ter