Canonical Allele Identifier: CA382806407
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503556C>T , CM000673.2:g.118503556C>T GRCh38
NC_000011.9:g.118374271C>T , CM000673.1:g.118374271C>T GRCh37
NC_000011.8:g.117879481C>T NCBI36
NG_027813.1:g.72067C>T , LRG_613:g.72067C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.7763C>T ENSP00000432391.3:p.Ser2588Leu
ENST00000710560.1:c.7754C>T ENSP00000518343.1:p.Ser2585Leu
ENST00000649878.2:c.1703C>T ENSP00000497891.2:p.Ser568Leu
ENST00000685397.1:c.1703C>T ENSP00000509586.1:p.Ser568Leu
ENST00000686370.1:c.1703C>T ENSP00000509179.1:p.Ser568Leu
ENST00000689424.1:c.1961C>T ENSP00000509852.1:p.Ser654Leu
ENST00000691053.1:c.7736C>T ENSP00000509168.1:p.Ser2579Leu
ENST00000389506.10:c.7655C>T ENSP00000374157.5:p.Ser2552Leu
ENST00000528278.2:n.7006C>T
ENST00000534358.8:c.7664C>T MANE Select ENSP00000436786.2:p.Ser2555Leu
ENST00000649699.1:c.7541C>T ENSP00000496927.1:p.Ser2514Leu
ENST00000389506.9:c.7655C>T ENSP00000374157.5:p.Ser2552Leu
ENST00000528278.1:n.1791C>T
ENST00000534358.5:c.7664C>T ENSP00000436786.1:p.Ser2555Leu
NM_001197104.1:c.7664C>T , LRG_613t1:c.7664C>T NP_001184033.1:p.Ser2555Leu
NM_005933.3:c.7655C>T NP_005924.2:p.Ser2552Leu
XM_006718839.2:c.5147C>T XP_006718902.2:p.Ser1716Leu
XM_011542829.1:c.7763C>T XP_011541131.1:p.Ser2588Leu
XM_011542830.1:c.7760C>T XP_011541132.1:p.Ser2587Leu
XM_011542831.1:c.7754C>T XP_011541133.1:p.Ser2585Leu
XM_011542832.1:c.5570C>T XP_011541134.1:p.Ser1857Leu
XM_011542833.1:c.5246C>T XP_011541135.1:p.Ser1749Leu
XM_006718839.3:c.5147C>T XP_006718902.2:p.Ser1716Leu
XM_011542829.2:c.7763C>T XP_011541131.1:p.Ser2588Leu
XM_011542830.2:c.7760C>T XP_011541132.1:p.Ser2587Leu
XM_011542831.2:c.7754C>T XP_011541133.1:p.Ser2585Leu
XM_011542833.2:c.5246C>T XP_011541135.1:p.Ser1749Leu
NM_001197104.2:c.7664C>T MANE Select NP_001184033.1:p.Ser2555Leu
NM_005933.4:c.7655C>T NP_005924.2:p.Ser2552Leu