Canonical Allele Identifier: CA382804792
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503124G>T , CM000673.2:g.118503124G>T GRCh38
NC_000011.9:g.118373839G>T , CM000673.1:g.118373839G>T GRCh37
NC_000011.8:g.117879049G>T NCBI36
NG_027813.1:g.71635G>T , LRG_613:g.71635G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7331G>T ENSP00000432391.3:p.Ser2444Ile
ENST00000710560.1:c.7322G>T ENSP00000518343.1:p.Ser2441Ile
ENST00000649878.2:c.1271G>T ENSP00000497891.2:p.Ser424Ile
ENST00000685397.1:c.1271G>T ENSP00000509586.1:p.Ser424Ile
ENST00000686370.1:c.1271G>T ENSP00000509179.1:p.Ser424Ile
ENST00000689424.1:c.1529G>T ENSP00000509852.1:p.Ser510Ile
ENST00000691053.1:c.7304G>T ENSP00000509168.1:p.Ser2435Ile
ENST00000389506.10:c.7223G>T ENSP00000374157.5:p.Ser2408Ile
ENST00000528278.2:n.6574G>T
ENST00000534358.8:c.7232G>T MANE Select ENSP00000436786.2:p.Ser2411Ile
ENST00000649699.1:c.7109G>T ENSP00000496927.1:p.Ser2370Ile
ENST00000389506.9:c.7223G>T ENSP00000374157.5:p.Ser2408Ile
ENST00000528278.1:n.1359G>T
ENST00000534358.5:c.7232G>T ENSP00000436786.1:p.Ser2411Ile
NM_001197104.1:c.7232G>T , LRG_613t1:c.7232G>T NP_001184033.1:p.Ser2411Ile
NM_005933.3:c.7223G>T NP_005924.2:p.Ser2408Ile
XM_006718839.2:c.4715G>T XP_006718902.2:p.Ser1572Ile
XM_011542829.1:c.7331G>T XP_011541131.1:p.Ser2444Ile
XM_011542830.1:c.7328G>T XP_011541132.1:p.Ser2443Ile
XM_011542831.1:c.7322G>T XP_011541133.1:p.Ser2441Ile
XM_011542832.1:c.5138G>T XP_011541134.1:p.Ser1713Ile
XM_011542833.1:c.4814G>T XP_011541135.1:p.Ser1605Ile
XM_006718839.3:c.4715G>T XP_006718902.2:p.Ser1572Ile
XM_011542829.2:c.7331G>T XP_011541131.1:p.Ser2444Ile
XM_011542830.2:c.7328G>T XP_011541132.1:p.Ser2443Ile
XM_011542831.2:c.7322G>T XP_011541133.1:p.Ser2441Ile
XM_011542833.2:c.4814G>T XP_011541135.1:p.Ser1605Ile
NM_001197104.2:c.7232G>T MANE Select NP_001184033.1:p.Ser2411Ile
NM_005933.4:c.7223G>T NP_005924.2:p.Ser2408Ile