Canonical Allele Identifier: CA382802621
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118502562A>T , CM000673.2:g.118502562A>T GRCh38
NC_000011.9:g.118373277A>T , CM000673.1:g.118373277A>T GRCh37
NC_000011.8:g.117878487A>T NCBI36
NG_027813.1:g.71073A>T , LRG_613:g.71073A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.6769A>T ENSP00000432391.3:p.Arg2257Trp
ENST00000710560.1:c.6760A>T ENSP00000518343.1:p.Arg2254Trp
ENST00000649878.2:c.709A>T ENSP00000497891.2:p.Arg237Trp
ENST00000685397.1:c.709A>T ENSP00000509586.1:p.Arg237Trp
ENST00000686370.1:c.709A>T ENSP00000509179.1:p.Arg237Trp
ENST00000689424.1:c.967A>T ENSP00000509852.1:p.Arg323Trp
ENST00000691053.1:c.6742A>T ENSP00000509168.1:p.Arg2248Trp
ENST00000389506.10:c.6661A>T ENSP00000374157.5:p.Arg2221Trp
ENST00000528278.2:n.6012A>T
ENST00000534358.8:c.6670A>T MANE Select ENSP00000436786.2:p.Arg2224Trp
ENST00000649699.1:c.6547A>T ENSP00000496927.1:p.Arg2183Trp
ENST00000389506.9:c.6661A>T ENSP00000374157.5:p.Arg2221Trp
ENST00000528278.1:n.797A>T
ENST00000534358.5:c.6670A>T ENSP00000436786.1:p.Arg2224Trp
NM_001197104.1:c.6670A>T , LRG_613t1:c.6670A>T NP_001184033.1:p.Arg2224Trp
NM_005933.3:c.6661A>T NP_005924.2:p.Arg2221Trp
XM_006718839.2:c.4153A>T XP_006718902.2:p.Arg1385Trp
XM_011542829.1:c.6769A>T XP_011541131.1:p.Arg2257Trp
XM_011542830.1:c.6766A>T XP_011541132.1:p.Arg2256Trp
XM_011542831.1:c.6760A>T XP_011541133.1:p.Arg2254Trp
XM_011542832.1:c.4576A>T XP_011541134.1:p.Arg1526Trp
XM_011542833.1:c.4252A>T XP_011541135.1:p.Arg1418Trp
XM_006718839.3:c.4153A>T XP_006718902.2:p.Arg1385Trp
XM_011542829.2:c.6769A>T XP_011541131.1:p.Arg2257Trp
XM_011542830.2:c.6766A>T XP_011541132.1:p.Arg2256Trp
XM_011542831.2:c.6760A>T XP_011541133.1:p.Arg2254Trp
XM_011542833.2:c.4252A>T XP_011541135.1:p.Arg1418Trp
NM_001197104.2:c.6670A>T MANE Select NP_001184033.1:p.Arg2224Trp
NM_005933.4:c.6661A>T NP_005924.2:p.Arg2221Trp