Canonical Allele Identifier: CA382801870

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118501797C>T , CM000673.2:g.118501797C>T	GRCh38
NC_000011.9:g.118372512C>T , CM000673.1:g.118372512C>T	GRCh37
NC_000011.8:g.117877722C>T	NCBI36
NG_027813.1:g.70308C>T , LRG_613:g.70308C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.6445C>T MANE Select	NP_001184033.1:p.Arg2149Ter
ENST00000534358.8:c.6445C>T MANE Select	ENSP00000436786.2:p.Arg2149Ter
NM_001197104.1:c.6445C>T , LRG_613t1:c.6445C>T	NP_001184033.1:p.Arg2149Ter
NM_005933.3:c.6436C>T	NP_005924.2:p.Arg2146Ter
NM_005933.4:c.6436C>T	NP_005924.2:p.Arg2146Ter
ENST00000389506.10:c.6436C>T	ENSP00000374157.5:p.Arg2146Ter
ENST00000389506.9:c.6436C>T	ENSP00000374157.5:p.Arg2146Ter
ENST00000528278.1:n.572C>T
ENST00000528278.2:n.5787C>T
ENST00000531904.7:c.6544C>T	ENSP00000432391.3:p.Arg2182Ter
ENST00000534358.5:c.6445C>T	ENSP00000436786.1:p.Arg2149Ter
ENST00000649699.1:c.6322C>T	ENSP00000496927.1:p.Arg2108Ter
ENST00000649878.2:c.484C>T	ENSP00000497891.2:p.Arg162Ter
ENST00000685397.1:c.484C>T	ENSP00000509586.1:p.Arg162Ter
ENST00000686370.1:c.484C>T	ENSP00000509179.1:p.Arg162Ter
ENST00000689424.1:c.742C>T	ENSP00000509852.1:p.Arg248Ter
ENST00000691053.1:c.6517C>T	ENSP00000509168.1:p.Arg2173Ter
ENST00000710560.1:c.6535C>T	ENSP00000518343.1:p.Arg2179Ter
XM_006718839.2:c.3928C>T	XP_006718902.2:p.Arg1310Ter
XM_006718839.3:c.3928C>T	XP_006718902.2:p.Arg1310Ter
XM_011542829.1:c.6544C>T	XP_011541131.1:p.Arg2182Ter
XM_011542829.2:c.6544C>T	XP_011541131.1:p.Arg2182Ter
XM_011542830.1:c.6541C>T	XP_011541132.1:p.Arg2181Ter
XM_011542830.2:c.6541C>T	XP_011541132.1:p.Arg2181Ter
XM_011542831.1:c.6535C>T	XP_011541133.1:p.Arg2179Ter
XM_011542831.2:c.6535C>T	XP_011541133.1:p.Arg2179Ter
XM_011542832.1:c.4351C>T	XP_011541134.1:p.Arg1451Ter
XM_011542833.1:c.4027C>T	XP_011541135.1:p.Arg1343Ter
XM_011542833.2:c.4027C>T	XP_011541135.1:p.Arg1343Ter