Canonical Allele Identifier: CA382828143

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118481933C>T , CM000673.2:g.118481933C>T	GRCh38
NC_000011.9:g.118352648C>T , CM000673.1:g.118352648C>T	GRCh37
NC_000011.8:g.117857858C>T	NCBI36
NG_027813.1:g.50444C>T , LRG_613:g.50444C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.3853C>T MANE Select	NP_001184033.1:p.Gln1285Ter
ENST00000534358.8:c.3853C>T MANE Select	ENSP00000436786.2:p.Gln1285Ter
NM_001197104.1:c.3853C>T , LRG_613t1:c.3853C>T	NP_001184033.1:p.Gln1285Ter
NM_005933.3:c.3853C>T	NP_005924.2:p.Gln1285Ter
NM_005933.4:c.3853C>T	NP_005924.2:p.Gln1285Ter
ENST00000389506.10:c.3853C>T	ENSP00000374157.5:p.Gln1285Ter
ENST00000389506.9:c.3853C>T	ENSP00000374157.5:p.Gln1285Ter
ENST00000392873.3:c.103C>T	ENSP00000376612.3:p.Gln35Ter
ENST00000527869.7:c.1435C>T	ENSP00000432652.3:p.Gln479Ter
ENST00000531904.6:c.3952C>T	ENSP00000432391.2:p.Gln1318Ter
ENST00000531904.7:c.3952C>T	ENSP00000432391.3:p.Gln1318Ter
ENST00000533790.3:c.1336C>T	ENSP00000436700.3:p.Gln446Ter
ENST00000534358.5:c.3853C>T	ENSP00000436786.1:p.Gln1285Ter
ENST00000648261.1:c.2623C>T	ENSP00000498126.1:p.Gln875Ter
ENST00000649690.2:c.1660C>T	ENSP00000497372.2:p.Gln554Ter
ENST00000649699.1:c.3853C>T	ENSP00000496927.1:p.Gln1285Ter
ENST00000685719.1:c.834C>T
ENST00000691053.1:c.3853C>T	ENSP00000509168.1:p.Gln1285Ter
ENST00000710560.1:c.3952C>T	ENSP00000518343.1:p.Gln1318Ter
XM_006718839.2:c.1336C>T	XP_006718902.2:p.Gln446Ter
XM_006718839.3:c.1336C>T	XP_006718902.2:p.Gln446Ter
XM_011542829.1:c.3952C>T	XP_011541131.1:p.Gln1318Ter
XM_011542829.2:c.3952C>T	XP_011541131.1:p.Gln1318Ter
XM_011542830.1:c.3952C>T	XP_011541132.1:p.Gln1318Ter
XM_011542830.2:c.3952C>T	XP_011541132.1:p.Gln1318Ter
XM_011542831.1:c.3952C>T	XP_011541133.1:p.Gln1318Ter
XM_011542831.2:c.3952C>T	XP_011541133.1:p.Gln1318Ter
XM_011542832.1:c.1759C>T	XP_011541134.1:p.Gln587Ter
XM_011542833.1:c.1435C>T	XP_011541135.1:p.Gln479Ter
XM_011542833.2:c.1435C>T	XP_011541135.1:p.Gln479Ter