Canonical Allele Identifier: CA382806040
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503463A>T , CM000673.2:g.118503463A>T GRCh38
NC_000011.9:g.118374178A>T , CM000673.1:g.118374178A>T GRCh37
NC_000011.8:g.117879388A>T NCBI36
NG_027813.1:g.71974A>T , LRG_613:g.71974A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.7670A>T ENSP00000432391.3:p.Lys2557Ile
ENST00000710560.1:c.7661A>T ENSP00000518343.1:p.Lys2554Ile
ENST00000649878.2:c.1610A>T ENSP00000497891.2:p.Lys537Ile
ENST00000685397.1:c.1610A>T ENSP00000509586.1:p.Lys537Ile
ENST00000686370.1:c.1610A>T ENSP00000509179.1:p.Lys537Ile
ENST00000689424.1:c.1868A>T ENSP00000509852.1:p.Lys623Ile
ENST00000691053.1:c.7643A>T ENSP00000509168.1:p.Lys2548Ile
ENST00000389506.10:c.7562A>T ENSP00000374157.5:p.Lys2521Ile
ENST00000528278.2:n.6913A>T
ENST00000534358.8:c.7571A>T MANE Select ENSP00000436786.2:p.Lys2524Ile
ENST00000649699.1:c.7448A>T ENSP00000496927.1:p.Lys2483Ile
ENST00000389506.9:c.7562A>T ENSP00000374157.5:p.Lys2521Ile
ENST00000528278.1:n.1698A>T
ENST00000534358.5:c.7571A>T ENSP00000436786.1:p.Lys2524Ile
NM_001197104.1:c.7571A>T , LRG_613t1:c.7571A>T NP_001184033.1:p.Lys2524Ile
NM_005933.3:c.7562A>T NP_005924.2:p.Lys2521Ile
XM_006718839.2:c.5054A>T XP_006718902.2:p.Lys1685Ile
XM_011542829.1:c.7670A>T XP_011541131.1:p.Lys2557Ile
XM_011542830.1:c.7667A>T XP_011541132.1:p.Lys2556Ile
XM_011542831.1:c.7661A>T XP_011541133.1:p.Lys2554Ile
XM_011542832.1:c.5477A>T XP_011541134.1:p.Lys1826Ile
XM_011542833.1:c.5153A>T XP_011541135.1:p.Lys1718Ile
XM_006718839.3:c.5054A>T XP_006718902.2:p.Lys1685Ile
XM_011542829.2:c.7670A>T XP_011541131.1:p.Lys2557Ile
XM_011542830.2:c.7667A>T XP_011541132.1:p.Lys2556Ile
XM_011542831.2:c.7661A>T XP_011541133.1:p.Lys2554Ile
XM_011542833.2:c.5153A>T XP_011541135.1:p.Lys1718Ile
NM_001197104.2:c.7571A>T MANE Select NP_001184033.1:p.Lys2524Ile
NM_005933.4:c.7562A>T NP_005924.2:p.Lys2521Ile