Canonical Allele Identifier: CA382832723
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118488725T>G , CM000673.2:g.118488725T>G GRCh38
NC_000011.9:g.118359440T>G , CM000673.1:g.118359440T>G GRCh37
NC_000011.8:g.117864650T>G NCBI36
NG_027813.1:g.57236T>G , LRG_613:g.57236T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.4543T>G ENSP00000432391.3:p.Cys1515Gly
ENST00000710560.1:c.4543T>G ENSP00000518343.1:p.Cys1515Gly
ENST00000420751.4:c.355T>G ENSP00000510776.1:p.Cys119Gly
ENST00000685498.1:c.223T>G ENSP00000509293.1:p.Cys75Gly
ENST00000691053.1:c.4444T>G ENSP00000509168.1:p.Cys1482Gly
ENST00000389506.10:c.4444T>G ENSP00000374157.5:p.Cys1482Gly
ENST00000534358.8:c.4444T>G MANE Select ENSP00000436786.2:p.Cys1482Gly
ENST00000649699.1:c.4330T>G ENSP00000496927.1:p.Cys1444Gly
ENST00000389506.9:c.4444T>G ENSP00000374157.5:p.Cys1482Gly
ENST00000392873.3:c.580T>G ENSP00000376612.3:p.Cys194Gly
ENST00000534358.5:c.4444T>G ENSP00000436786.1:p.Cys1482Gly
NM_001197104.1:c.4444T>G , LRG_613t1:c.4444T>G NP_001184033.1:p.Cys1482Gly
NM_005933.3:c.4444T>G NP_005924.2:p.Cys1482Gly
XM_006718839.2:c.1927T>G XP_006718902.2:p.Cys643Gly
XM_011542829.1:c.4543T>G XP_011541131.1:p.Cys1515Gly
XM_011542830.1:c.4543T>G XP_011541132.1:p.Cys1515Gly
XM_011542831.1:c.4543T>G XP_011541133.1:p.Cys1515Gly
XM_011542832.1:c.2350T>G XP_011541134.1:p.Cys784Gly
XM_011542833.1:c.2026T>G XP_011541135.1:p.Cys676Gly
XM_006718839.3:c.1927T>G XP_006718902.2:p.Cys643Gly
XM_011542829.2:c.4543T>G XP_011541131.1:p.Cys1515Gly
XM_011542830.2:c.4543T>G XP_011541132.1:p.Cys1515Gly
XM_011542831.2:c.4543T>G XP_011541133.1:p.Cys1515Gly
XM_011542833.2:c.2026T>G XP_011541135.1:p.Cys676Gly
NM_001197104.2:c.4444T>G MANE Select NP_001184033.1:p.Cys1482Gly
NM_005933.4:c.4444T>G NP_005924.2:p.Cys1482Gly