Canonical Allele Identifier: CA382804829
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs2134390520

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503133C>T , CM000673.2:g.118503133C>T GRCh38
NC_000011.9:g.118373848C>T , CM000673.1:g.118373848C>T GRCh37
NC_000011.8:g.117879058C>T NCBI36
NG_027813.1:g.71644C>T , LRG_613:g.71644C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7340C>T ENSP00000432391.3:p.Ser2447Leu
ENST00000710560.1:c.7331C>T ENSP00000518343.1:p.Ser2444Leu
ENST00000649878.2:c.1280C>T ENSP00000497891.2:p.Ser427Leu
ENST00000685397.1:c.1280C>T ENSP00000509586.1:p.Ser427Leu
ENST00000686370.1:c.1280C>T ENSP00000509179.1:p.Ser427Leu
ENST00000689424.1:c.1538C>T ENSP00000509852.1:p.Ser513Leu
ENST00000691053.1:c.7313C>T ENSP00000509168.1:p.Ser2438Leu
ENST00000389506.10:c.7232C>T ENSP00000374157.5:p.Ser2411Leu
ENST00000528278.2:n.6583C>T
ENST00000534358.8:c.7241C>T MANE Select ENSP00000436786.2:p.Ser2414Leu
ENST00000649699.1:c.7118C>T ENSP00000496927.1:p.Ser2373Leu
ENST00000389506.9:c.7232C>T ENSP00000374157.5:p.Ser2411Leu
ENST00000528278.1:n.1368C>T
ENST00000534358.5:c.7241C>T ENSP00000436786.1:p.Ser2414Leu
NM_001197104.1:c.7241C>T , LRG_613t1:c.7241C>T NP_001184033.1:p.Ser2414Leu
NM_005933.3:c.7232C>T NP_005924.2:p.Ser2411Leu
XM_006718839.2:c.4724C>T XP_006718902.2:p.Ser1575Leu
XM_011542829.1:c.7340C>T XP_011541131.1:p.Ser2447Leu
XM_011542830.1:c.7337C>T XP_011541132.1:p.Ser2446Leu
XM_011542831.1:c.7331C>T XP_011541133.1:p.Ser2444Leu
XM_011542832.1:c.5147C>T XP_011541134.1:p.Ser1716Leu
XM_011542833.1:c.4823C>T XP_011541135.1:p.Ser1608Leu
XM_006718839.3:c.4724C>T XP_006718902.2:p.Ser1575Leu
XM_011542829.2:c.7340C>T XP_011541131.1:p.Ser2447Leu
XM_011542830.2:c.7337C>T XP_011541132.1:p.Ser2446Leu
XM_011542831.2:c.7331C>T XP_011541133.1:p.Ser2444Leu
XM_011542833.2:c.4823C>T XP_011541135.1:p.Ser1608Leu
NM_001197104.2:c.7241C>T MANE Select NP_001184033.1:p.Ser2414Leu
NM_005933.4:c.7232C>T NP_005924.2:p.Ser2411Leu