Canonical Allele Identifier: CA6304883
Community Standard Title: NM_001197104.2(KMT2A):c.11006A>G (p.Lys3669Arg)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118510053A>G , CM000673.2:g.118510053A>G GRCh38
NC_000011.9:g.118380768A>G , CM000673.1:g.118380768A>G GRCh37
NC_000011.8:g.117885978A>G NCBI36
NG_027813.1:g.78564A>G , LRG_613:g.78564A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.11006A>G MANE Select NP_001184033.1:p.Lys3669Arg
ENST00000534358.8:c.11006A>G MANE Select ENSP00000436786.2:p.Lys3669Arg
NM_001197104.1:c.11006A>G , LRG_613t1:c.11006A>G NP_001184033.1:p.Lys3669Arg
NM_005933.3:c.10997A>G NP_005924.2:p.Lys3666Arg
NM_005933.4:c.10997A>G NP_005924.2:p.Lys3666Arg
ENST00000389506.10:c.10997A>G ENSP00000374157.5:p.Lys3666Arg
ENST00000389506.9:c.10997A>G ENSP00000374157.5:p.Lys3666Arg
ENST00000527839.2:n.506A>G
ENST00000531904.7:c.11105A>G ENSP00000432391.3:p.Lys3702Arg
ENST00000534358.5:c.11006A>G ENSP00000436786.1:p.Lys3669Arg
ENST00000534678.2:n.108A>G
ENST00000534678.3:n.464A>G
ENST00000647944.1:c.656A>G ENSP00000498134.1:p.Lys219Arg
ENST00000648565.1:n.242A>G
ENST00000649699.1:c.10883A>G ENSP00000496927.1:p.Lys3628Arg
ENST00000649878.1:c.330A>G ENSP00000497891.1:n.330A>G
ENST00000649878.2:c.5022A>G ENSP00000497891.2:n.5022A>G
ENST00000685397.1:c.4964A>G ENSP00000509586.1:p.Lys1655Arg
ENST00000686370.1:c.5066A>G ENSP00000509179.1:p.Lys1689Arg
ENST00000686588.1:c.106A>G
ENST00000691053.1:c.11078A>G ENSP00000509168.1:p.Lys3693Arg
ENST00000710560.1:c.11096A>G ENSP00000518343.1:p.Lys3699Arg
XM_006718839.2:c.8489A>G XP_006718902.2:p.Lys2830Arg
XM_006718839.3:c.8489A>G XP_006718902.2:p.Lys2830Arg
XM_011542829.1:c.11105A>G XP_011541131.1:p.Lys3702Arg
XM_011542829.2:c.11105A>G XP_011541131.1:p.Lys3702Arg
XM_011542830.1:c.11102A>G XP_011541132.1:p.Lys3701Arg
XM_011542830.2:c.11102A>G XP_011541132.1:p.Lys3701Arg
XM_011542831.1:c.11096A>G XP_011541133.1:p.Lys3699Arg
XM_011542831.2:c.11096A>G XP_011541133.1:p.Lys3699Arg
XM_011542832.1:c.8912A>G XP_011541134.1:p.Lys2971Arg
XM_011542833.1:c.8588A>G XP_011541135.1:p.Lys2863Arg
XM_011542833.2:c.8588A>G XP_011541135.1:p.Lys2863Arg