Canonical Allele Identifier: CA6304273
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 3011861
ClinVar RCV Id: RCV003872924
dbSNP Id: rs377156559

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118502481C>T , CM000673.2:g.118502481C>T GRCh38
NC_000011.9:g.118373196C>T , CM000673.1:g.118373196C>T GRCh37
NC_000011.8:g.117878406C>T NCBI36
NG_027813.1:g.70992C>T , LRG_613:g.70992C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.6688C>T ENSP00000432391.3:p.Arg2230Cys
ENST00000710560.1:c.6679C>T ENSP00000518343.1:p.Arg2227Cys
ENST00000649878.2:c.628C>T ENSP00000497891.2:p.Arg210Cys
ENST00000685397.1:c.628C>T ENSP00000509586.1:p.Arg210Cys
ENST00000686370.1:c.628C>T ENSP00000509179.1:p.Arg210Cys
ENST00000689424.1:c.886C>T ENSP00000509852.1:p.Arg296Cys
ENST00000691053.1:c.6661C>T ENSP00000509168.1:p.Arg2221Cys
ENST00000389506.10:c.6580C>T ENSP00000374157.5:p.Arg2194Cys
ENST00000528278.2:n.5931C>T
ENST00000534358.8:c.6589C>T MANE Select ENSP00000436786.2:p.Arg2197Cys
ENST00000649699.1:c.6466C>T ENSP00000496927.1:p.Arg2156Cys
ENST00000389506.9:c.6580C>T ENSP00000374157.5:p.Arg2194Cys
ENST00000528278.1:n.716C>T
ENST00000534358.5:c.6589C>T ENSP00000436786.1:p.Arg2197Cys
NM_001197104.1:c.6589C>T , LRG_613t1:c.6589C>T NP_001184033.1:p.Arg2197Cys
NM_005933.3:c.6580C>T NP_005924.2:p.Arg2194Cys
XM_006718839.2:c.4072C>T XP_006718902.2:p.Arg1358Cys
XM_011542829.1:c.6688C>T XP_011541131.1:p.Arg2230Cys
XM_011542830.1:c.6685C>T XP_011541132.1:p.Arg2229Cys
XM_011542831.1:c.6679C>T XP_011541133.1:p.Arg2227Cys
XM_011542832.1:c.4495C>T XP_011541134.1:p.Arg1499Cys
XM_011542833.1:c.4171C>T XP_011541135.1:p.Arg1391Cys
XM_006718839.3:c.4072C>T XP_006718902.2:p.Arg1358Cys
XM_011542829.2:c.6688C>T XP_011541131.1:p.Arg2230Cys
XM_011542830.2:c.6685C>T XP_011541132.1:p.Arg2229Cys
XM_011542831.2:c.6679C>T XP_011541133.1:p.Arg2227Cys
XM_011542833.2:c.4171C>T XP_011541135.1:p.Arg1391Cys
NM_001197104.2:c.6589C>T MANE Select NP_001184033.1:p.Arg2197Cys
NM_005933.4:c.6580C>T NP_005924.2:p.Arg2194Cys