Canonical Allele Identifier: CA382805736
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503370A>C , CM000673.2:g.118503370A>C GRCh38
NC_000011.9:g.118374085A>C , CM000673.1:g.118374085A>C GRCh37
NC_000011.8:g.117879295A>C NCBI36
NG_027813.1:g.71881A>C , LRG_613:g.71881A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7577A>C ENSP00000432391.3:p.Lys2526Thr
ENST00000710560.1:c.7568A>C ENSP00000518343.1:p.Lys2523Thr
ENST00000649878.2:c.1517A>C ENSP00000497891.2:p.Lys506Thr
ENST00000685397.1:c.1517A>C ENSP00000509586.1:p.Lys506Thr
ENST00000686370.1:c.1517A>C ENSP00000509179.1:p.Lys506Thr
ENST00000689424.1:c.1775A>C ENSP00000509852.1:p.Lys592Thr
ENST00000691053.1:c.7550A>C ENSP00000509168.1:p.Lys2517Thr
ENST00000389506.10:c.7469A>C ENSP00000374157.5:p.Lys2490Thr
ENST00000528278.2:n.6820A>C
ENST00000534358.8:c.7478A>C MANE Select ENSP00000436786.2:p.Lys2493Thr
ENST00000649699.1:c.7355A>C ENSP00000496927.1:p.Lys2452Thr
ENST00000389506.9:c.7469A>C ENSP00000374157.5:p.Lys2490Thr
ENST00000528278.1:n.1605A>C
ENST00000534358.5:c.7478A>C ENSP00000436786.1:p.Lys2493Thr
NM_001197104.1:c.7478A>C , LRG_613t1:c.7478A>C NP_001184033.1:p.Lys2493Thr
NM_005933.3:c.7469A>C NP_005924.2:p.Lys2490Thr
XM_006718839.2:c.4961A>C XP_006718902.2:p.Lys1654Thr
XM_011542829.1:c.7577A>C XP_011541131.1:p.Lys2526Thr
XM_011542830.1:c.7574A>C XP_011541132.1:p.Lys2525Thr
XM_011542831.1:c.7568A>C XP_011541133.1:p.Lys2523Thr
XM_011542832.1:c.5384A>C XP_011541134.1:p.Lys1795Thr
XM_011542833.1:c.5060A>C XP_011541135.1:p.Lys1687Thr
XM_006718839.3:c.4961A>C XP_006718902.2:p.Lys1654Thr
XM_011542829.2:c.7577A>C XP_011541131.1:p.Lys2526Thr
XM_011542830.2:c.7574A>C XP_011541132.1:p.Lys2525Thr
XM_011542831.2:c.7568A>C XP_011541133.1:p.Lys2523Thr
XM_011542833.2:c.5060A>C XP_011541135.1:p.Lys1687Thr
NM_001197104.2:c.7478A>C MANE Select NP_001184033.1:p.Lys2493Thr
NM_005933.4:c.7469A>C NP_005924.2:p.Lys2490Thr