Canonical Allele Identifier: CA16603320
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 377261
ClinVar RCV Id: RCV000442553
dbSNP Id: rs1057520177

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503551dup , CM000673.2:g.118503551dup GRCh38
NC_000011.9:g.118374266dup , CM000673.1:g.118374266dup GRCh37
NC_000011.8:g.117879476dup NCBI36
NG_027813.1:g.72062dup , LRG_613:g.72062dup

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.7758dup ENSP00000432391.3:p.Glu2587ArgfsTer13
ENST00000710560.1:c.7749dup ENSP00000518343.1:p.Glu2584ArgfsTer13
ENST00000649878.2:c.1698dup ENSP00000497891.2:p.Glu567ArgfsTer13
ENST00000685397.1:c.1698dup ENSP00000509586.1:p.Glu567ArgfsTer13
ENST00000686370.1:c.1698dup ENSP00000509179.1:p.Glu567ArgfsTer13
ENST00000689424.1:c.1956dup ENSP00000509852.1:p.Glu653ArgfsTer13
ENST00000691053.1:c.7731dup ENSP00000509168.1:p.Glu2578ArgfsTer13
ENST00000389506.10:c.7650dup ENSP00000374157.5:p.Glu2551ArgfsTer13
ENST00000528278.2:n.7001dup
ENST00000534358.8:c.7659dup MANE Select ENSP00000436786.2:p.Glu2554ArgfsTer13
ENST00000649699.1:c.7536dup ENSP00000496927.1:p.Glu2513ArgfsTer13
ENST00000389506.9:c.7650dup ENSP00000374157.5:p.Glu2551ArgfsTer13
ENST00000528278.1:n.1786dup
ENST00000534358.5:c.7659dup ENSP00000436786.1:p.Glu2554ArgfsTer13
NM_001197104.1:c.7659dup , LRG_613t1:c.7659dup NP_001184033.1:p.Glu2554ArgfsTer13
NM_005933.3:c.7650dup NP_005924.2:p.Glu2551ArgfsTer13
XM_006718839.2:c.5142dup XP_006718902.2:p.Glu1715ArgfsTer13
XM_011542829.1:c.7758dup XP_011541131.1:p.Glu2587ArgfsTer13
XM_011542830.1:c.7755dup XP_011541132.1:p.Glu2586ArgfsTer13
XM_011542831.1:c.7749dup XP_011541133.1:p.Glu2584ArgfsTer13
XM_011542832.1:c.5565dup XP_011541134.1:p.Glu1856ArgfsTer13
XM_011542833.1:c.5241dup XP_011541135.1:p.Glu1748ArgfsTer13
XM_006718839.3:c.5142dup XP_006718902.2:p.Glu1715ArgfsTer13
XM_011542829.2:c.7758dup XP_011541131.1:p.Glu2587ArgfsTer13
XM_011542830.2:c.7755dup XP_011541132.1:p.Glu2586ArgfsTer13
XM_011542831.2:c.7749dup XP_011541133.1:p.Glu2584ArgfsTer13
XM_011542833.2:c.5241dup XP_011541135.1:p.Glu1748ArgfsTer13
NM_001197104.2:c.7659dup MANE Select NP_001184033.1:p.Glu2554ArgfsTer13
NM_005933.4:c.7650dup NP_005924.2:p.Glu2551ArgfsTer13