Canonical Allele Identifier: CA2003527587
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503212C= , CM000673.2:g.118503212C= GRCh38
NC_000011.9:g.118373927C= , CM000673.1:g.118373927C= GRCh37
NC_000011.8:g.117879137C= NCBI36
NG_027813.1:g.71723C= , LRG_613:g.71723C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7419C= ENSP00000432391.3:p.Phe2473=
ENST00000710560.1:c.7410C= ENSP00000518343.1:p.Phe2470=
ENST00000649878.2:c.1359C= ENSP00000497891.2:p.Phe453=
ENST00000685397.1:c.1359C= ENSP00000509586.1:p.Phe453=
ENST00000686370.1:c.1359C= ENSP00000509179.1:p.Phe453=
ENST00000689424.1:c.1617C= ENSP00000509852.1:p.Phe539=
ENST00000691053.1:c.7392C= ENSP00000509168.1:p.Phe2464=
ENST00000389506.10:c.7311C= ENSP00000374157.5:p.Phe2437=
ENST00000528278.2:n.6662C=
ENST00000534358.8:c.7320C= MANE Select ENSP00000436786.2:p.Phe2440=
ENST00000649699.1:c.7197C= ENSP00000496927.1:p.Phe2399=
ENST00000389506.9:c.7311C= ENSP00000374157.5:p.Phe2437=
ENST00000528278.1:n.1447C=
ENST00000534358.5:c.7320C= ENSP00000436786.1:p.Phe2440=
NM_001197104.1:c.7320C= , LRG_613t1:c.7320C= NP_001184033.1:p.Phe2440=
NM_005933.3:c.7311C= NP_005924.2:p.Phe2437=
XM_006718839.2:c.4803C= XP_006718902.2:p.Phe1601=
XM_011542829.1:c.7419C= XP_011541131.1:p.Phe2473=
XM_011542830.1:c.7416C= XP_011541132.1:p.Phe2472=
XM_011542831.1:c.7410C= XP_011541133.1:p.Phe2470=
XM_011542832.1:c.5226C= XP_011541134.1:p.Phe1742=
XM_011542833.1:c.4902C= XP_011541135.1:p.Phe1634=
XM_006718839.3:c.4803C= XP_006718902.2:p.Phe1601=
XM_011542829.2:c.7419C= XP_011541131.1:p.Phe2473=
XM_011542830.2:c.7416C= XP_011541132.1:p.Phe2472=
XM_011542831.2:c.7410C= XP_011541133.1:p.Phe2470=
XM_011542833.2:c.4902C= XP_011541135.1:p.Phe1634=
NM_001197104.2:c.7320C= MANE Select NP_001184033.1:p.Phe2440=
NM_005933.4:c.7311C= NP_005924.2:p.Phe2437=