Canonical Allele Identifier: CA382806451
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503562C>A , CM000673.2:g.118503562C>A GRCh38
NC_000011.9:g.118374277C>A , CM000673.1:g.118374277C>A GRCh37
NC_000011.8:g.117879487C>A NCBI36
NG_027813.1:g.72073C>A , LRG_613:g.72073C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.7769C>A ENSP00000432391.3:p.Ser2590Tyr
ENST00000710560.1:c.7760C>A ENSP00000518343.1:p.Ser2587Tyr
ENST00000649878.2:c.1709C>A ENSP00000497891.2:p.Ser570Tyr
ENST00000685397.1:c.1709C>A ENSP00000509586.1:p.Ser570Tyr
ENST00000686370.1:c.1709C>A ENSP00000509179.1:p.Ser570Tyr
ENST00000689424.1:c.1967C>A ENSP00000509852.1:p.Ser656Tyr
ENST00000691053.1:c.7742C>A ENSP00000509168.1:p.Ser2581Tyr
ENST00000389506.10:c.7661C>A ENSP00000374157.5:p.Ser2554Tyr
ENST00000528278.2:n.7012C>A
ENST00000534358.8:c.7670C>A MANE Select ENSP00000436786.2:p.Ser2557Tyr
ENST00000649699.1:c.7547C>A ENSP00000496927.1:p.Ser2516Tyr
ENST00000389506.9:c.7661C>A ENSP00000374157.5:p.Ser2554Tyr
ENST00000528278.1:n.1797C>A
ENST00000534358.5:c.7670C>A ENSP00000436786.1:p.Ser2557Tyr
NM_001197104.1:c.7670C>A , LRG_613t1:c.7670C>A NP_001184033.1:p.Ser2557Tyr
NM_005933.3:c.7661C>A NP_005924.2:p.Ser2554Tyr
XM_006718839.2:c.5153C>A XP_006718902.2:p.Ser1718Tyr
XM_011542829.1:c.7769C>A XP_011541131.1:p.Ser2590Tyr
XM_011542830.1:c.7766C>A XP_011541132.1:p.Ser2589Tyr
XM_011542831.1:c.7760C>A XP_011541133.1:p.Ser2587Tyr
XM_011542832.1:c.5576C>A XP_011541134.1:p.Ser1859Tyr
XM_011542833.1:c.5252C>A XP_011541135.1:p.Ser1751Tyr
XM_006718839.3:c.5153C>A XP_006718902.2:p.Ser1718Tyr
XM_011542829.2:c.7769C>A XP_011541131.1:p.Ser2590Tyr
XM_011542830.2:c.7766C>A XP_011541132.1:p.Ser2589Tyr
XM_011542831.2:c.7760C>A XP_011541133.1:p.Ser2587Tyr
XM_011542833.2:c.5252C>A XP_011541135.1:p.Ser1751Tyr
NM_001197104.2:c.7670C>A MANE Select NP_001184033.1:p.Ser2557Tyr
NM_005933.4:c.7661C>A NP_005924.2:p.Ser2554Tyr