Canonical Allele Identifier: CA382804868
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1450966966

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503151A>T , CM000673.2:g.118503151A>T GRCh38
NC_000011.9:g.118373866A>T , CM000673.1:g.118373866A>T GRCh37
NC_000011.8:g.117879076A>T NCBI36
NG_027813.1:g.71662A>T , LRG_613:g.71662A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7358A>T ENSP00000432391.3:p.His2453Leu
ENST00000710560.1:c.7349A>T ENSP00000518343.1:p.His2450Leu
ENST00000649878.2:c.1298A>T ENSP00000497891.2:p.His433Leu
ENST00000685397.1:c.1298A>T ENSP00000509586.1:p.His433Leu
ENST00000686370.1:c.1298A>T ENSP00000509179.1:p.His433Leu
ENST00000689424.1:c.1556A>T ENSP00000509852.1:p.His519Leu
ENST00000691053.1:c.7331A>T ENSP00000509168.1:p.His2444Leu
ENST00000389506.10:c.7250A>T ENSP00000374157.5:p.His2417Leu
ENST00000528278.2:n.6601A>T
ENST00000534358.8:c.7259A>T MANE Select ENSP00000436786.2:p.His2420Leu
ENST00000649699.1:c.7136A>T ENSP00000496927.1:p.His2379Leu
ENST00000389506.9:c.7250A>T ENSP00000374157.5:p.His2417Leu
ENST00000528278.1:n.1386A>T
ENST00000534358.5:c.7259A>T ENSP00000436786.1:p.His2420Leu
NM_001197104.1:c.7259A>T , LRG_613t1:c.7259A>T NP_001184033.1:p.His2420Leu
NM_005933.3:c.7250A>T NP_005924.2:p.His2417Leu
XM_006718839.2:c.4742A>T XP_006718902.2:p.His1581Leu
XM_011542829.1:c.7358A>T XP_011541131.1:p.His2453Leu
XM_011542830.1:c.7355A>T XP_011541132.1:p.His2452Leu
XM_011542831.1:c.7349A>T XP_011541133.1:p.His2450Leu
XM_011542832.1:c.5165A>T XP_011541134.1:p.His1722Leu
XM_011542833.1:c.4841A>T XP_011541135.1:p.His1614Leu
XM_006718839.3:c.4742A>T XP_006718902.2:p.His1581Leu
XM_011542829.2:c.7358A>T XP_011541131.1:p.His2453Leu
XM_011542830.2:c.7355A>T XP_011541132.1:p.His2452Leu
XM_011542831.2:c.7349A>T XP_011541133.1:p.His2450Leu
XM_011542833.2:c.4841A>T XP_011541135.1:p.His1614Leu
NM_001197104.2:c.7259A>T MANE Select NP_001184033.1:p.His2420Leu
NM_005933.4:c.7250A>T NP_005924.2:p.His2417Leu