Canonical Allele Identifier: CA382804992
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1950529054

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503184A>G , CM000673.2:g.118503184A>G GRCh38
NC_000011.9:g.118373899A>G , CM000673.1:g.118373899A>G GRCh37
NC_000011.8:g.117879109A>G NCBI36
NG_027813.1:g.71695A>G , LRG_613:g.71695A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7391A>G ENSP00000432391.3:p.Lys2464Arg
ENST00000710560.1:c.7382A>G ENSP00000518343.1:p.Lys2461Arg
ENST00000649878.2:c.1331A>G ENSP00000497891.2:p.Lys444Arg
ENST00000685397.1:c.1331A>G ENSP00000509586.1:p.Lys444Arg
ENST00000686370.1:c.1331A>G ENSP00000509179.1:p.Lys444Arg
ENST00000689424.1:c.1589A>G ENSP00000509852.1:p.Lys530Arg
ENST00000691053.1:c.7364A>G ENSP00000509168.1:p.Lys2455Arg
ENST00000389506.10:c.7283A>G ENSP00000374157.5:p.Lys2428Arg
ENST00000528278.2:n.6634A>G
ENST00000534358.8:c.7292A>G MANE Select ENSP00000436786.2:p.Lys2431Arg
ENST00000649699.1:c.7169A>G ENSP00000496927.1:p.Lys2390Arg
ENST00000389506.9:c.7283A>G ENSP00000374157.5:p.Lys2428Arg
ENST00000528278.1:n.1419A>G
ENST00000534358.5:c.7292A>G ENSP00000436786.1:p.Lys2431Arg
NM_001197104.1:c.7292A>G , LRG_613t1:c.7292A>G NP_001184033.1:p.Lys2431Arg
NM_005933.3:c.7283A>G NP_005924.2:p.Lys2428Arg
XM_006718839.2:c.4775A>G XP_006718902.2:p.Lys1592Arg
XM_011542829.1:c.7391A>G XP_011541131.1:p.Lys2464Arg
XM_011542830.1:c.7388A>G XP_011541132.1:p.Lys2463Arg
XM_011542831.1:c.7382A>G XP_011541133.1:p.Lys2461Arg
XM_011542832.1:c.5198A>G XP_011541134.1:p.Lys1733Arg
XM_011542833.1:c.4874A>G XP_011541135.1:p.Lys1625Arg
XM_006718839.3:c.4775A>G XP_006718902.2:p.Lys1592Arg
XM_011542829.2:c.7391A>G XP_011541131.1:p.Lys2464Arg
XM_011542830.2:c.7388A>G XP_011541132.1:p.Lys2463Arg
XM_011542831.2:c.7382A>G XP_011541133.1:p.Lys2461Arg
XM_011542833.2:c.4874A>G XP_011541135.1:p.Lys1625Arg
NM_001197104.2:c.7292A>G MANE Select NP_001184033.1:p.Lys2431Arg
NM_005933.4:c.7283A>G NP_005924.2:p.Lys2428Arg