Canonical Allele Identifier: CA382805500
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs2134391778

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503310C>T , CM000673.2:g.118503310C>T GRCh38
NC_000011.9:g.118374025C>T , CM000673.1:g.118374025C>T GRCh37
NC_000011.8:g.117879235C>T NCBI36
NG_027813.1:g.71821C>T , LRG_613:g.71821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7517C>T ENSP00000432391.3:p.Thr2506Ile
ENST00000710560.1:c.7508C>T ENSP00000518343.1:p.Thr2503Ile
ENST00000649878.2:c.1457C>T ENSP00000497891.2:p.Thr486Ile
ENST00000685397.1:c.1457C>T ENSP00000509586.1:p.Thr486Ile
ENST00000686370.1:c.1457C>T ENSP00000509179.1:p.Thr486Ile
ENST00000689424.1:c.1715C>T ENSP00000509852.1:p.Thr572Ile
ENST00000691053.1:c.7490C>T ENSP00000509168.1:p.Thr2497Ile
ENST00000389506.10:c.7409C>T ENSP00000374157.5:p.Thr2470Ile
ENST00000528278.2:n.6760C>T
ENST00000534358.8:c.7418C>T MANE Select ENSP00000436786.2:p.Thr2473Ile
ENST00000649699.1:c.7295C>T ENSP00000496927.1:p.Thr2432Ile
ENST00000389506.9:c.7409C>T ENSP00000374157.5:p.Thr2470Ile
ENST00000528278.1:n.1545C>T
ENST00000534358.5:c.7418C>T ENSP00000436786.1:p.Thr2473Ile
NM_001197104.1:c.7418C>T , LRG_613t1:c.7418C>T NP_001184033.1:p.Thr2473Ile
NM_005933.3:c.7409C>T NP_005924.2:p.Thr2470Ile
XM_006718839.2:c.4901C>T XP_006718902.2:p.Thr1634Ile
XM_011542829.1:c.7517C>T XP_011541131.1:p.Thr2506Ile
XM_011542830.1:c.7514C>T XP_011541132.1:p.Thr2505Ile
XM_011542831.1:c.7508C>T XP_011541133.1:p.Thr2503Ile
XM_011542832.1:c.5324C>T XP_011541134.1:p.Thr1775Ile
XM_011542833.1:c.5000C>T XP_011541135.1:p.Thr1667Ile
XM_006718839.3:c.4901C>T XP_006718902.2:p.Thr1634Ile
XM_011542829.2:c.7517C>T XP_011541131.1:p.Thr2506Ile
XM_011542830.2:c.7514C>T XP_011541132.1:p.Thr2505Ile
XM_011542831.2:c.7508C>T XP_011541133.1:p.Thr2503Ile
XM_011542833.2:c.5000C>T XP_011541135.1:p.Thr1667Ile
NM_001197104.2:c.7418C>T MANE Select NP_001184033.1:p.Thr2473Ile
NM_005933.4:c.7409C>T NP_005924.2:p.Thr2470Ile