Canonical Allele Identifier: CA382817582
Community Standard Title: NM_001197104.2(KMT2A):c.8992A>T (p.Ile2998Phe)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118504884A>T , CM000673.2:g.118504884A>T GRCh38
NC_000011.9:g.118375599A>T , CM000673.1:g.118375599A>T GRCh37
NC_000011.8:g.117880809A>T NCBI36
NG_027813.1:g.73395A>T , LRG_613:g.73395A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.8992A>T MANE Select NP_001184033.1:p.Ile2998Phe
ENST00000534358.8:c.8992A>T MANE Select ENSP00000436786.2:p.Ile2998Phe
NM_001197104.1:c.8992A>T , LRG_613t1:c.8992A>T NP_001184033.1:p.Ile2998Phe
NM_005933.3:c.8983A>T NP_005924.2:p.Ile2995Phe
NM_005933.4:c.8983A>T NP_005924.2:p.Ile2995Phe
ENST00000389506.10:c.8983A>T ENSP00000374157.5:p.Ile2995Phe
ENST00000389506.9:c.8983A>T ENSP00000374157.5:p.Ile2995Phe
ENST00000528278.2:n.8334A>T
ENST00000531904.7:c.9091A>T ENSP00000432391.3:p.Ile3031Phe
ENST00000534358.5:c.8992A>T ENSP00000436786.1:p.Ile2998Phe
ENST00000649699.1:c.8869A>T ENSP00000496927.1:p.Ile2957Phe
ENST00000649878.2:c.3031A>T ENSP00000497891.2:p.Ile1011Phe
ENST00000685397.1:c.3031A>T ENSP00000509586.1:p.Ile1011Phe
ENST00000686370.1:c.3031A>T ENSP00000509179.1:p.Ile1011Phe
ENST00000689424.1:c.3289A>T ENSP00000509852.1:p.Ile1097Phe
ENST00000691053.1:c.9064A>T ENSP00000509168.1:p.Ile3022Phe
ENST00000710560.1:c.9082A>T ENSP00000518343.1:p.Ile3028Phe
XM_006718839.2:c.6475A>T XP_006718902.2:p.Ile2159Phe
XM_006718839.3:c.6475A>T XP_006718902.2:p.Ile2159Phe
XM_011542829.1:c.9091A>T XP_011541131.1:p.Ile3031Phe
XM_011542829.2:c.9091A>T XP_011541131.1:p.Ile3031Phe
XM_011542830.1:c.9088A>T XP_011541132.1:p.Ile3030Phe
XM_011542830.2:c.9088A>T XP_011541132.1:p.Ile3030Phe
XM_011542831.1:c.9082A>T XP_011541133.1:p.Ile3028Phe
XM_011542831.2:c.9082A>T XP_011541133.1:p.Ile3028Phe
XM_011542832.1:c.6898A>T XP_011541134.1:p.Ile2300Phe
XM_011542833.1:c.6574A>T XP_011541135.1:p.Ile2192Phe
XM_011542833.2:c.6574A>T XP_011541135.1:p.Ile2192Phe