Canonical Allele Identifier: CA382805699
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503360A>T , CM000673.2:g.118503360A>T GRCh38
NC_000011.9:g.118374075A>T , CM000673.1:g.118374075A>T GRCh37
NC_000011.8:g.117879285A>T NCBI36
NG_027813.1:g.71871A>T , LRG_613:g.71871A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7567A>T ENSP00000432391.3:p.Ile2523Phe
ENST00000710560.1:c.7558A>T ENSP00000518343.1:p.Ile2520Phe
ENST00000649878.2:c.1507A>T ENSP00000497891.2:p.Ile503Phe
ENST00000685397.1:c.1507A>T ENSP00000509586.1:p.Ile503Phe
ENST00000686370.1:c.1507A>T ENSP00000509179.1:p.Ile503Phe
ENST00000689424.1:c.1765A>T ENSP00000509852.1:p.Ile589Phe
ENST00000691053.1:c.7540A>T ENSP00000509168.1:p.Ile2514Phe
ENST00000389506.10:c.7459A>T ENSP00000374157.5:p.Ile2487Phe
ENST00000528278.2:n.6810A>T
ENST00000534358.8:c.7468A>T MANE Select ENSP00000436786.2:p.Ile2490Phe
ENST00000649699.1:c.7345A>T ENSP00000496927.1:p.Ile2449Phe
ENST00000389506.9:c.7459A>T ENSP00000374157.5:p.Ile2487Phe
ENST00000528278.1:n.1595A>T
ENST00000534358.5:c.7468A>T ENSP00000436786.1:p.Ile2490Phe
NM_001197104.1:c.7468A>T , LRG_613t1:c.7468A>T NP_001184033.1:p.Ile2490Phe
NM_005933.3:c.7459A>T NP_005924.2:p.Ile2487Phe
XM_006718839.2:c.4951A>T XP_006718902.2:p.Ile1651Phe
XM_011542829.1:c.7567A>T XP_011541131.1:p.Ile2523Phe
XM_011542830.1:c.7564A>T XP_011541132.1:p.Ile2522Phe
XM_011542831.1:c.7558A>T XP_011541133.1:p.Ile2520Phe
XM_011542832.1:c.5374A>T XP_011541134.1:p.Ile1792Phe
XM_011542833.1:c.5050A>T XP_011541135.1:p.Ile1684Phe
XM_006718839.3:c.4951A>T XP_006718902.2:p.Ile1651Phe
XM_011542829.2:c.7567A>T XP_011541131.1:p.Ile2523Phe
XM_011542830.2:c.7564A>T XP_011541132.1:p.Ile2522Phe
XM_011542831.2:c.7558A>T XP_011541133.1:p.Ile2520Phe
XM_011542833.2:c.5050A>T XP_011541135.1:p.Ile1684Phe
NM_001197104.2:c.7468A>T MANE Select NP_001184033.1:p.Ile2490Phe
NM_005933.4:c.7459A>T NP_005924.2:p.Ile2487Phe