Canonical Allele Identifier: CA382804828
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs2134390520

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7340C>G ENSP00000432391.3:p.Ser2447Ter
ENST00000710560.1:c.7331C>G ENSP00000518343.1:p.Ser2444Ter
ENST00000649878.2:c.1280C>G ENSP00000497891.2:p.Ser427Ter
ENST00000685397.1:c.1280C>G ENSP00000509586.1:p.Ser427Ter
ENST00000686370.1:c.1280C>G ENSP00000509179.1:p.Ser427Ter
ENST00000689424.1:c.1538C>G ENSP00000509852.1:p.Ser513Ter
ENST00000691053.1:c.7313C>G ENSP00000509168.1:p.Ser2438Ter
ENST00000389506.10:c.7232C>G ENSP00000374157.5:p.Ser2411Ter
ENST00000528278.2:n.6583C>G
ENST00000534358.8:c.7241C>G MANE Select ENSP00000436786.2:p.Ser2414Ter
ENST00000649699.1:c.7118C>G ENSP00000496927.1:p.Ser2373Ter
ENST00000389506.9:c.7232C>G ENSP00000374157.5:p.Ser2411Ter
ENST00000528278.1:n.1368C>G
ENST00000534358.5:c.7241C>G ENSP00000436786.1:p.Ser2414Ter
NM_001197104.1:c.7241C>G , LRG_613t1:c.7241C>G NP_001184033.1:p.Ser2414Ter
NM_005933.3:c.7232C>G NP_005924.2:p.Ser2411Ter
XM_006718839.2:c.4724C>G XP_006718902.2:p.Ser1575Ter
XM_011542829.1:c.7340C>G XP_011541131.1:p.Ser2447Ter
XM_011542830.1:c.7337C>G XP_011541132.1:p.Ser2446Ter
XM_011542831.1:c.7331C>G XP_011541133.1:p.Ser2444Ter
XM_011542832.1:c.5147C>G XP_011541134.1:p.Ser1716Ter
XM_011542833.1:c.4823C>G XP_011541135.1:p.Ser1608Ter
XM_006718839.3:c.4724C>G XP_006718902.2:p.Ser1575Ter
XM_011542829.2:c.7340C>G XP_011541131.1:p.Ser2447Ter
XM_011542830.2:c.7337C>G XP_011541132.1:p.Ser2446Ter
XM_011542831.2:c.7331C>G XP_011541133.1:p.Ser2444Ter
XM_011542833.2:c.4823C>G XP_011541135.1:p.Ser1608Ter
NM_001197104.2:c.7241C>G MANE Select NP_001184033.1:p.Ser2414Ter
NM_005933.4:c.7232C>G NP_005924.2:p.Ser2411Ter