Canonical Allele Identifier: CA382797494

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118497946G>A , CM000673.2:g.118497946G>A	GRCh38
NC_000011.9:g.118368661G>A , CM000673.1:g.118368661G>A	GRCh37
NC_000011.8:g.117873871G>A	NCBI36
NG_027813.1:g.66457G>A , LRG_613:g.66457G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.5675G>A MANE Select	NP_001184033.1:p.Arg1892His
ENST00000534358.8:c.5675G>A MANE Select	ENSP00000436786.2:p.Arg1892His
NM_001197104.1:c.5675G>A , LRG_613t1:c.5675G>A	NP_001184033.1:p.Arg1892His
NM_005933.3:c.5666G>A	NP_005924.2:p.Arg1889His
NM_005933.4:c.5666G>A	NP_005924.2:p.Arg1889His
ENST00000389506.10:c.5666G>A	ENSP00000374157.5:p.Arg1889His
ENST00000389506.9:c.5666G>A	ENSP00000374157.5:p.Arg1889His
ENST00000528278.2:n.2756G>A
ENST00000531904.7:c.5774G>A	ENSP00000432391.3:p.Arg1925His
ENST00000534358.5:c.5675G>A	ENSP00000436786.1:p.Arg1892His
ENST00000649699.1:c.5552G>A	ENSP00000496927.1:p.Arg1851His
ENST00000689424.1:c.11G>A	ENSP00000509852.1:p.Arg4His
ENST00000691053.1:c.5747G>A	ENSP00000509168.1:p.Arg1916His
ENST00000710560.1:c.5765G>A	ENSP00000518343.1:p.Arg1922His
XM_006718839.2:c.3158G>A	XP_006718902.2:p.Arg1053His
XM_006718839.3:c.3158G>A	XP_006718902.2:p.Arg1053His
XM_011542829.1:c.5774G>A	XP_011541131.1:p.Arg1925His
XM_011542829.2:c.5774G>A	XP_011541131.1:p.Arg1925His
XM_011542830.1:c.5771G>A	XP_011541132.1:p.Arg1924His
XM_011542830.2:c.5771G>A	XP_011541132.1:p.Arg1924His
XM_011542831.1:c.5765G>A	XP_011541133.1:p.Arg1922His
XM_011542831.2:c.5765G>A	XP_011541133.1:p.Arg1922His
XM_011542832.1:c.3581G>A	XP_011541134.1:p.Arg1194His
XM_011542833.1:c.3257G>A	XP_011541135.1:p.Arg1086His
XM_011542833.2:c.3257G>A	XP_011541135.1:p.Arg1086His