Canonical Allele Identifier: CA382805494
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs2134391761

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503309A>T , CM000673.2:g.118503309A>T GRCh38
NC_000011.9:g.118374024A>T , CM000673.1:g.118374024A>T GRCh37
NC_000011.8:g.117879234A>T NCBI36
NG_027813.1:g.71820A>T , LRG_613:g.71820A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7516A>T ENSP00000432391.3:p.Thr2506Ser
ENST00000710560.1:c.7507A>T ENSP00000518343.1:p.Thr2503Ser
ENST00000649878.2:c.1456A>T ENSP00000497891.2:p.Thr486Ser
ENST00000685397.1:c.1456A>T ENSP00000509586.1:p.Thr486Ser
ENST00000686370.1:c.1456A>T ENSP00000509179.1:p.Thr486Ser
ENST00000689424.1:c.1714A>T ENSP00000509852.1:p.Thr572Ser
ENST00000691053.1:c.7489A>T ENSP00000509168.1:p.Thr2497Ser
ENST00000389506.10:c.7408A>T ENSP00000374157.5:p.Thr2470Ser
ENST00000528278.2:n.6759A>T
ENST00000534358.8:c.7417A>T MANE Select ENSP00000436786.2:p.Thr2473Ser
ENST00000649699.1:c.7294A>T ENSP00000496927.1:p.Thr2432Ser
ENST00000389506.9:c.7408A>T ENSP00000374157.5:p.Thr2470Ser
ENST00000528278.1:n.1544A>T
ENST00000534358.5:c.7417A>T ENSP00000436786.1:p.Thr2473Ser
NM_001197104.1:c.7417A>T , LRG_613t1:c.7417A>T NP_001184033.1:p.Thr2473Ser
NM_005933.3:c.7408A>T NP_005924.2:p.Thr2470Ser
XM_006718839.2:c.4900A>T XP_006718902.2:p.Thr1634Ser
XM_011542829.1:c.7516A>T XP_011541131.1:p.Thr2506Ser
XM_011542830.1:c.7513A>T XP_011541132.1:p.Thr2505Ser
XM_011542831.1:c.7507A>T XP_011541133.1:p.Thr2503Ser
XM_011542832.1:c.5323A>T XP_011541134.1:p.Thr1775Ser
XM_011542833.1:c.4999A>T XP_011541135.1:p.Thr1667Ser
XM_006718839.3:c.4900A>T XP_006718902.2:p.Thr1634Ser
XM_011542829.2:c.7516A>T XP_011541131.1:p.Thr2506Ser
XM_011542830.2:c.7513A>T XP_011541132.1:p.Thr2505Ser
XM_011542831.2:c.7507A>T XP_011541133.1:p.Thr2503Ser
XM_011542833.2:c.4999A>T XP_011541135.1:p.Thr1667Ser
NM_001197104.2:c.7417A>T MANE Select NP_001184033.1:p.Thr2473Ser
NM_005933.4:c.7408A>T NP_005924.2:p.Thr2470Ser