Canonical Allele Identifier: CA382804999
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs2134391011

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503186G>A , CM000673.2:g.118503186G>A GRCh38
NC_000011.9:g.118373901G>A , CM000673.1:g.118373901G>A GRCh37
NC_000011.8:g.117879111G>A NCBI36
NG_027813.1:g.71697G>A , LRG_613:g.71697G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7393G>A ENSP00000432391.3:p.Gly2465Arg
ENST00000710560.1:c.7384G>A ENSP00000518343.1:p.Gly2462Arg
ENST00000649878.2:c.1333G>A ENSP00000497891.2:p.Gly445Arg
ENST00000685397.1:c.1333G>A ENSP00000509586.1:p.Gly445Arg
ENST00000686370.1:c.1333G>A ENSP00000509179.1:p.Gly445Arg
ENST00000689424.1:c.1591G>A ENSP00000509852.1:p.Gly531Arg
ENST00000691053.1:c.7366G>A ENSP00000509168.1:p.Gly2456Arg
ENST00000389506.10:c.7285G>A ENSP00000374157.5:p.Gly2429Arg
ENST00000528278.2:n.6636G>A
ENST00000534358.8:c.7294G>A MANE Select ENSP00000436786.2:p.Gly2432Arg
ENST00000649699.1:c.7171G>A ENSP00000496927.1:p.Gly2391Arg
ENST00000389506.9:c.7285G>A ENSP00000374157.5:p.Gly2429Arg
ENST00000528278.1:n.1421G>A
ENST00000534358.5:c.7294G>A ENSP00000436786.1:p.Gly2432Arg
NM_001197104.1:c.7294G>A , LRG_613t1:c.7294G>A NP_001184033.1:p.Gly2432Arg
NM_005933.3:c.7285G>A NP_005924.2:p.Gly2429Arg
XM_006718839.2:c.4777G>A XP_006718902.2:p.Gly1593Arg
XM_011542829.1:c.7393G>A XP_011541131.1:p.Gly2465Arg
XM_011542830.1:c.7390G>A XP_011541132.1:p.Gly2464Arg
XM_011542831.1:c.7384G>A XP_011541133.1:p.Gly2462Arg
XM_011542832.1:c.5200G>A XP_011541134.1:p.Gly1734Arg
XM_011542833.1:c.4876G>A XP_011541135.1:p.Gly1626Arg
XM_006718839.3:c.4777G>A XP_006718902.2:p.Gly1593Arg
XM_011542829.2:c.7393G>A XP_011541131.1:p.Gly2465Arg
XM_011542830.2:c.7390G>A XP_011541132.1:p.Gly2464Arg
XM_011542831.2:c.7384G>A XP_011541133.1:p.Gly2462Arg
XM_011542833.2:c.4876G>A XP_011541135.1:p.Gly1626Arg
NM_001197104.2:c.7294G>A MANE Select NP_001184033.1:p.Gly2432Arg
NM_005933.4:c.7285G>A NP_005924.2:p.Gly2429Arg