Canonical Allele Identifier: CA2003526425
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118502558C= , CM000673.2:g.118502558C= GRCh38
NC_000011.9:g.118373273C= , CM000673.1:g.118373273C= GRCh37
NC_000011.8:g.117878483C= NCBI36
NG_027813.1:g.71069C= , LRG_613:g.71069C=

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.6765C= ENSP00000432391.3:p.Tyr2255=
ENST00000710560.1:c.6756C= ENSP00000518343.1:p.Tyr2252=
ENST00000649878.2:c.705C= ENSP00000497891.2:p.Tyr235=
ENST00000685397.1:c.705C= ENSP00000509586.1:p.Tyr235=
ENST00000686370.1:c.705C= ENSP00000509179.1:p.Tyr235=
ENST00000689424.1:c.963C= ENSP00000509852.1:p.Tyr321=
ENST00000691053.1:c.6738C= ENSP00000509168.1:p.Tyr2246=
ENST00000389506.10:c.6657C= ENSP00000374157.5:p.Tyr2219=
ENST00000528278.2:n.6008C=
ENST00000534358.8:c.6666C= MANE Select ENSP00000436786.2:p.Tyr2222=
ENST00000649699.1:c.6543C= ENSP00000496927.1:p.Tyr2181=
ENST00000389506.9:c.6657C= ENSP00000374157.5:p.Tyr2219=
ENST00000528278.1:n.793C=
ENST00000534358.5:c.6666C= ENSP00000436786.1:p.Tyr2222=
NM_001197104.1:c.6666C= , LRG_613t1:c.6666C= NP_001184033.1:p.Tyr2222=
NM_005933.3:c.6657C= NP_005924.2:p.Tyr2219=
XM_006718839.2:c.4149C= XP_006718902.2:p.Tyr1383=
XM_011542829.1:c.6765C= XP_011541131.1:p.Tyr2255=
XM_011542830.1:c.6762C= XP_011541132.1:p.Tyr2254=
XM_011542831.1:c.6756C= XP_011541133.1:p.Tyr2252=
XM_011542832.1:c.4572C= XP_011541134.1:p.Tyr1524=
XM_011542833.1:c.4248C= XP_011541135.1:p.Tyr1416=
XM_006718839.3:c.4149C= XP_006718902.2:p.Tyr1383=
XM_011542829.2:c.6765C= XP_011541131.1:p.Tyr2255=
XM_011542830.2:c.6762C= XP_011541132.1:p.Tyr2254=
XM_011542831.2:c.6756C= XP_011541133.1:p.Tyr2252=
XM_011542833.2:c.4248C= XP_011541135.1:p.Tyr1416=
NM_001197104.2:c.6666C= MANE Select NP_001184033.1:p.Tyr2222=
NM_005933.4:c.6657C= NP_005924.2:p.Tyr2219=