Canonical Allele Identifier: CA382806381
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503552G>T , CM000673.2:g.118503552G>T GRCh38
NC_000011.9:g.118374267G>T , CM000673.1:g.118374267G>T GRCh37
NC_000011.8:g.117879477G>T NCBI36
NG_027813.1:g.72063G>T , LRG_613:g.72063G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.7759G>T ENSP00000432391.3:p.Glu2587Ter
ENST00000710560.1:c.7750G>T ENSP00000518343.1:p.Glu2584Ter
ENST00000649878.2:c.1699G>T ENSP00000497891.2:p.Glu567Ter
ENST00000685397.1:c.1699G>T ENSP00000509586.1:p.Glu567Ter
ENST00000686370.1:c.1699G>T ENSP00000509179.1:p.Glu567Ter
ENST00000689424.1:c.1957G>T ENSP00000509852.1:p.Glu653Ter
ENST00000691053.1:c.7732G>T ENSP00000509168.1:p.Glu2578Ter
ENST00000389506.10:c.7651G>T ENSP00000374157.5:p.Glu2551Ter
ENST00000528278.2:n.7002G>T
ENST00000534358.8:c.7660G>T MANE Select ENSP00000436786.2:p.Glu2554Ter
ENST00000649699.1:c.7537G>T ENSP00000496927.1:p.Glu2513Ter
ENST00000389506.9:c.7651G>T ENSP00000374157.5:p.Glu2551Ter
ENST00000528278.1:n.1787G>T
ENST00000534358.5:c.7660G>T ENSP00000436786.1:p.Glu2554Ter
NM_001197104.1:c.7660G>T , LRG_613t1:c.7660G>T NP_001184033.1:p.Glu2554Ter
NM_005933.3:c.7651G>T NP_005924.2:p.Glu2551Ter
XM_006718839.2:c.5143G>T XP_006718902.2:p.Glu1715Ter
XM_011542829.1:c.7759G>T XP_011541131.1:p.Glu2587Ter
XM_011542830.1:c.7756G>T XP_011541132.1:p.Glu2586Ter
XM_011542831.1:c.7750G>T XP_011541133.1:p.Glu2584Ter
XM_011542832.1:c.5566G>T XP_011541134.1:p.Glu1856Ter
XM_011542833.1:c.5242G>T XP_011541135.1:p.Glu1748Ter
XM_006718839.3:c.5143G>T XP_006718902.2:p.Glu1715Ter
XM_011542829.2:c.7759G>T XP_011541131.1:p.Glu2587Ter
XM_011542830.2:c.7756G>T XP_011541132.1:p.Glu2586Ter
XM_011542831.2:c.7750G>T XP_011541133.1:p.Glu2584Ter
XM_011542833.2:c.5242G>T XP_011541135.1:p.Glu1748Ter
NM_001197104.2:c.7660G>T MANE Select NP_001184033.1:p.Glu2554Ter
NM_005933.4:c.7651G>T NP_005924.2:p.Glu2551Ter