Canonical Allele Identifier: CA382806393
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503555T>G , CM000673.2:g.118503555T>G GRCh38
NC_000011.9:g.118374270T>G , CM000673.1:g.118374270T>G GRCh37
NC_000011.8:g.117879480T>G NCBI36
NG_027813.1:g.72066T>G , LRG_613:g.72066T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.7762T>G ENSP00000432391.3:p.Ser2588Ala
ENST00000710560.1:c.7753T>G ENSP00000518343.1:p.Ser2585Ala
ENST00000649878.2:c.1702T>G ENSP00000497891.2:p.Ser568Ala
ENST00000685397.1:c.1702T>G ENSP00000509586.1:p.Ser568Ala
ENST00000686370.1:c.1702T>G ENSP00000509179.1:p.Ser568Ala
ENST00000689424.1:c.1960T>G ENSP00000509852.1:p.Ser654Ala
ENST00000691053.1:c.7735T>G ENSP00000509168.1:p.Ser2579Ala
ENST00000389506.10:c.7654T>G ENSP00000374157.5:p.Ser2552Ala
ENST00000528278.2:n.7005T>G
ENST00000534358.8:c.7663T>G MANE Select ENSP00000436786.2:p.Ser2555Ala
ENST00000649699.1:c.7540T>G ENSP00000496927.1:p.Ser2514Ala
ENST00000389506.9:c.7654T>G ENSP00000374157.5:p.Ser2552Ala
ENST00000528278.1:n.1790T>G
ENST00000534358.5:c.7663T>G ENSP00000436786.1:p.Ser2555Ala
NM_001197104.1:c.7663T>G , LRG_613t1:c.7663T>G NP_001184033.1:p.Ser2555Ala
NM_005933.3:c.7654T>G NP_005924.2:p.Ser2552Ala
XM_006718839.2:c.5146T>G XP_006718902.2:p.Ser1716Ala
XM_011542829.1:c.7762T>G XP_011541131.1:p.Ser2588Ala
XM_011542830.1:c.7759T>G XP_011541132.1:p.Ser2587Ala
XM_011542831.1:c.7753T>G XP_011541133.1:p.Ser2585Ala
XM_011542832.1:c.5569T>G XP_011541134.1:p.Ser1857Ala
XM_011542833.1:c.5245T>G XP_011541135.1:p.Ser1749Ala
XM_006718839.3:c.5146T>G XP_006718902.2:p.Ser1716Ala
XM_011542829.2:c.7762T>G XP_011541131.1:p.Ser2588Ala
XM_011542830.2:c.7759T>G XP_011541132.1:p.Ser2587Ala
XM_011542831.2:c.7753T>G XP_011541133.1:p.Ser2585Ala
XM_011542833.2:c.5245T>G XP_011541135.1:p.Ser1749Ala
NM_001197104.2:c.7663T>G MANE Select NP_001184033.1:p.Ser2555Ala
NM_005933.4:c.7654T>G NP_005924.2:p.Ser2552Ala