Canonical Allele Identifier: CA382826480
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118480220C>A , CM000673.2:g.118480220C>A GRCh38
NC_000011.9:g.118350935C>A , CM000673.1:g.118350935C>A GRCh37
NC_000011.8:g.117856145C>A NCBI36
NG_027813.1:g.48731C>A , LRG_613:g.48731C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.3715C>A ENSP00000432391.3:p.Leu1239Met
ENST00000710560.1:c.3715C>A ENSP00000518343.1:p.Leu1239Met
ENST00000527869.7:c.1198C>A ENSP00000432652.3:p.Leu400Met
ENST00000533790.3:c.1099C>A ENSP00000436700.3:p.Leu367Met
ENST00000649690.2:c.1423C>A ENSP00000497372.2:p.Leu475Met
ENST00000685719.1:c.597C>A
ENST00000691053.1:c.3616C>A ENSP00000509168.1:p.Leu1206Met
ENST00000389506.10:c.3616C>A ENSP00000374157.5:p.Leu1206Met
ENST00000533790.2:c.868C>A ENSP00000436700.2:p.Leu290Met
ENST00000534358.8:c.3616C>A MANE Select ENSP00000436786.2:p.Leu1206Met
ENST00000648261.1:c.2386C>A ENSP00000498126.1:p.Leu796Met
ENST00000649699.1:c.3616C>A ENSP00000496927.1:p.Leu1206Met
ENST00000389506.9:c.3616C>A ENSP00000374157.5:p.Leu1206Met
ENST00000531904.6:c.3715C>A ENSP00000432391.2:p.Leu1239Met
ENST00000534358.5:c.3616C>A ENSP00000436786.1:p.Leu1206Met
NM_001197104.1:c.3616C>A , LRG_613t1:c.3616C>A NP_001184033.1:p.Leu1206Met
NM_005933.3:c.3616C>A NP_005924.2:p.Leu1206Met
XM_006718839.2:c.1099C>A XP_006718902.2:p.Leu367Met
XM_011542829.1:c.3715C>A XP_011541131.1:p.Leu1239Met
XM_011542830.1:c.3715C>A XP_011541132.1:p.Leu1239Met
XM_011542831.1:c.3715C>A XP_011541133.1:p.Leu1239Met
XM_011542832.1:c.1522C>A XP_011541134.1:p.Leu508Met
XM_011542833.1:c.1198C>A XP_011541135.1:p.Leu400Met
XM_006718839.3:c.1099C>A XP_006718902.2:p.Leu367Met
XM_011542829.2:c.3715C>A XP_011541131.1:p.Leu1239Met
XM_011542830.2:c.3715C>A XP_011541132.1:p.Leu1239Met
XM_011542831.2:c.3715C>A XP_011541133.1:p.Leu1239Met
XM_011542833.2:c.1198C>A XP_011541135.1:p.Leu400Met
NM_001197104.2:c.3616C>A MANE Select NP_001184033.1:p.Leu1206Met
NM_005933.4:c.3616C>A NP_005924.2:p.Leu1206Met