Canonical Allele Identifier: CA382806037
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503462A>C , CM000673.2:g.118503462A>C GRCh38
NC_000011.9:g.118374177A>C , CM000673.1:g.118374177A>C GRCh37
NC_000011.8:g.117879387A>C NCBI36
NG_027813.1:g.71973A>C , LRG_613:g.71973A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.7669A>C ENSP00000432391.3:p.Lys2557Gln
ENST00000710560.1:c.7660A>C ENSP00000518343.1:p.Lys2554Gln
ENST00000649878.2:c.1609A>C ENSP00000497891.2:p.Lys537Gln
ENST00000685397.1:c.1609A>C ENSP00000509586.1:p.Lys537Gln
ENST00000686370.1:c.1609A>C ENSP00000509179.1:p.Lys537Gln
ENST00000689424.1:c.1867A>C ENSP00000509852.1:p.Lys623Gln
ENST00000691053.1:c.7642A>C ENSP00000509168.1:p.Lys2548Gln
ENST00000389506.10:c.7561A>C ENSP00000374157.5:p.Lys2521Gln
ENST00000528278.2:n.6912A>C
ENST00000534358.8:c.7570A>C MANE Select ENSP00000436786.2:p.Lys2524Gln
ENST00000649699.1:c.7447A>C ENSP00000496927.1:p.Lys2483Gln
ENST00000389506.9:c.7561A>C ENSP00000374157.5:p.Lys2521Gln
ENST00000528278.1:n.1697A>C
ENST00000534358.5:c.7570A>C ENSP00000436786.1:p.Lys2524Gln
NM_001197104.1:c.7570A>C , LRG_613t1:c.7570A>C NP_001184033.1:p.Lys2524Gln
NM_005933.3:c.7561A>C NP_005924.2:p.Lys2521Gln
XM_006718839.2:c.5053A>C XP_006718902.2:p.Lys1685Gln
XM_011542829.1:c.7669A>C XP_011541131.1:p.Lys2557Gln
XM_011542830.1:c.7666A>C XP_011541132.1:p.Lys2556Gln
XM_011542831.1:c.7660A>C XP_011541133.1:p.Lys2554Gln
XM_011542832.1:c.5476A>C XP_011541134.1:p.Lys1826Gln
XM_011542833.1:c.5152A>C XP_011541135.1:p.Lys1718Gln
XM_006718839.3:c.5053A>C XP_006718902.2:p.Lys1685Gln
XM_011542829.2:c.7669A>C XP_011541131.1:p.Lys2557Gln
XM_011542830.2:c.7666A>C XP_011541132.1:p.Lys2556Gln
XM_011542831.2:c.7660A>C XP_011541133.1:p.Lys2554Gln
XM_011542833.2:c.5152A>C XP_011541135.1:p.Lys1718Gln
NM_001197104.2:c.7570A>C MANE Select NP_001184033.1:p.Lys2524Gln
NM_005933.4:c.7561A>C NP_005924.2:p.Lys2521Gln