Canonical Allele Identifier: CA382805410
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503292T>A , CM000673.2:g.118503292T>A GRCh38
NC_000011.9:g.118374007T>A , CM000673.1:g.118374007T>A GRCh37
NC_000011.8:g.117879217T>A NCBI36
NG_027813.1:g.71803T>A , LRG_613:g.71803T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7499T>A ENSP00000432391.3:p.Phe2500Tyr
ENST00000710560.1:c.7490T>A ENSP00000518343.1:p.Phe2497Tyr
ENST00000649878.2:c.1439T>A ENSP00000497891.2:p.Phe480Tyr
ENST00000685397.1:c.1439T>A ENSP00000509586.1:p.Phe480Tyr
ENST00000686370.1:c.1439T>A ENSP00000509179.1:p.Phe480Tyr
ENST00000689424.1:c.1697T>A ENSP00000509852.1:p.Phe566Tyr
ENST00000691053.1:c.7472T>A ENSP00000509168.1:p.Phe2491Tyr
ENST00000389506.10:c.7391T>A ENSP00000374157.5:p.Phe2464Tyr
ENST00000528278.2:n.6742T>A
ENST00000534358.8:c.7400T>A MANE Select ENSP00000436786.2:p.Phe2467Tyr
ENST00000649699.1:c.7277T>A ENSP00000496927.1:p.Phe2426Tyr
ENST00000389506.9:c.7391T>A ENSP00000374157.5:p.Phe2464Tyr
ENST00000528278.1:n.1527T>A
ENST00000534358.5:c.7400T>A ENSP00000436786.1:p.Phe2467Tyr
NM_001197104.1:c.7400T>A , LRG_613t1:c.7400T>A NP_001184033.1:p.Phe2467Tyr
NM_005933.3:c.7391T>A NP_005924.2:p.Phe2464Tyr
XM_006718839.2:c.4883T>A XP_006718902.2:p.Phe1628Tyr
XM_011542829.1:c.7499T>A XP_011541131.1:p.Phe2500Tyr
XM_011542830.1:c.7496T>A XP_011541132.1:p.Phe2499Tyr
XM_011542831.1:c.7490T>A XP_011541133.1:p.Phe2497Tyr
XM_011542832.1:c.5306T>A XP_011541134.1:p.Phe1769Tyr
XM_011542833.1:c.4982T>A XP_011541135.1:p.Phe1661Tyr
XM_006718839.3:c.4883T>A XP_006718902.2:p.Phe1628Tyr
XM_011542829.2:c.7499T>A XP_011541131.1:p.Phe2500Tyr
XM_011542830.2:c.7496T>A XP_011541132.1:p.Phe2499Tyr
XM_011542831.2:c.7490T>A XP_011541133.1:p.Phe2497Tyr
XM_011542833.2:c.4982T>A XP_011541135.1:p.Phe1661Tyr
NM_001197104.2:c.7400T>A MANE Select NP_001184033.1:p.Phe2467Tyr
NM_005933.4:c.7391T>A NP_005924.2:p.Phe2464Tyr