Canonical Allele Identifier: CA382805665
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs2134392110

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503352C>A , CM000673.2:g.118503352C>A GRCh38
NC_000011.9:g.118374067C>A , CM000673.1:g.118374067C>A GRCh37
NC_000011.8:g.117879277C>A NCBI36
NG_027813.1:g.71863C>A , LRG_613:g.71863C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7559C>A ENSP00000432391.3:p.Ser2520Tyr
ENST00000710560.1:c.7550C>A ENSP00000518343.1:p.Ser2517Tyr
ENST00000649878.2:c.1499C>A ENSP00000497891.2:p.Ser500Tyr
ENST00000685397.1:c.1499C>A ENSP00000509586.1:p.Ser500Tyr
ENST00000686370.1:c.1499C>A ENSP00000509179.1:p.Ser500Tyr
ENST00000689424.1:c.1757C>A ENSP00000509852.1:p.Ser586Tyr
ENST00000691053.1:c.7532C>A ENSP00000509168.1:p.Ser2511Tyr
ENST00000389506.10:c.7451C>A ENSP00000374157.5:p.Ser2484Tyr
ENST00000528278.2:n.6802C>A
ENST00000534358.8:c.7460C>A MANE Select ENSP00000436786.2:p.Ser2487Tyr
ENST00000649699.1:c.7337C>A ENSP00000496927.1:p.Ser2446Tyr
ENST00000389506.9:c.7451C>A ENSP00000374157.5:p.Ser2484Tyr
ENST00000528278.1:n.1587C>A
ENST00000534358.5:c.7460C>A ENSP00000436786.1:p.Ser2487Tyr
NM_001197104.1:c.7460C>A , LRG_613t1:c.7460C>A NP_001184033.1:p.Ser2487Tyr
NM_005933.3:c.7451C>A NP_005924.2:p.Ser2484Tyr
XM_006718839.2:c.4943C>A XP_006718902.2:p.Ser1648Tyr
XM_011542829.1:c.7559C>A XP_011541131.1:p.Ser2520Tyr
XM_011542830.1:c.7556C>A XP_011541132.1:p.Ser2519Tyr
XM_011542831.1:c.7550C>A XP_011541133.1:p.Ser2517Tyr
XM_011542832.1:c.5366C>A XP_011541134.1:p.Ser1789Tyr
XM_011542833.1:c.5042C>A XP_011541135.1:p.Ser1681Tyr
XM_006718839.3:c.4943C>A XP_006718902.2:p.Ser1648Tyr
XM_011542829.2:c.7559C>A XP_011541131.1:p.Ser2520Tyr
XM_011542830.2:c.7556C>A XP_011541132.1:p.Ser2519Tyr
XM_011542831.2:c.7550C>A XP_011541133.1:p.Ser2517Tyr
XM_011542833.2:c.5042C>A XP_011541135.1:p.Ser1681Tyr
NM_001197104.2:c.7460C>A MANE Select NP_001184033.1:p.Ser2487Tyr
NM_005933.4:c.7451C>A NP_005924.2:p.Ser2484Tyr