Canonical Allele Identifier: CA382830240

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118484267C>T , CM000673.2:g.118484267C>T	GRCh38
NC_000011.9:g.118354982C>T , CM000673.1:g.118354982C>T	GRCh37
NC_000011.8:g.117860192C>T	NCBI36
NG_027813.1:g.52778C>T , LRG_613:g.52778C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.4171C>T MANE Select	NP_001184033.1:p.Gln1391Ter
ENST00000534358.8:c.4171C>T MANE Select	ENSP00000436786.2:p.Gln1391Ter
NM_001197104.1:c.4171C>T , LRG_613t1:c.4171C>T	NP_001184033.1:p.Gln1391Ter
NM_005933.3:c.4171C>T	NP_005924.2:p.Gln1391Ter
NM_005933.4:c.4171C>T	NP_005924.2:p.Gln1391Ter
ENST00000389506.10:c.4171C>T	ENSP00000374157.5:p.Gln1391Ter
ENST00000389506.9:c.4171C>T	ENSP00000374157.5:p.Gln1391Ter
ENST00000392873.3:c.421C>T	ENSP00000376612.3:p.Gln141Ter
ENST00000392873.4:n.264C>T
ENST00000420751.2:n.190C>T
ENST00000420751.3:n.190C>T
ENST00000420751.4:c.85C>T	ENSP00000510776.1:p.Gln29Ter
ENST00000531904.6:c.4270C>T	ENSP00000432391.2:p.Gln1424Ter
ENST00000531904.7:c.4270C>T	ENSP00000432391.3:p.Gln1424Ter
ENST00000534358.5:c.4171C>T	ENSP00000436786.1:p.Gln1391Ter
ENST00000649699.1:c.4171C>T	ENSP00000496927.1:p.Gln1391Ter
ENST00000685719.1:c.1078C>T
ENST00000691053.1:c.4171C>T	ENSP00000509168.1:p.Gln1391Ter
ENST00000710560.1:c.4270C>T	ENSP00000518343.1:p.Gln1424Ter
XM_006718839.2:c.1654C>T	XP_006718902.2:p.Gln552Ter
XM_006718839.3:c.1654C>T	XP_006718902.2:p.Gln552Ter
XM_011542829.1:c.4270C>T	XP_011541131.1:p.Gln1424Ter
XM_011542829.2:c.4270C>T	XP_011541131.1:p.Gln1424Ter
XM_011542830.1:c.4270C>T	XP_011541132.1:p.Gln1424Ter
XM_011542830.2:c.4270C>T	XP_011541132.1:p.Gln1424Ter
XM_011542831.1:c.4270C>T	XP_011541133.1:p.Gln1424Ter
XM_011542831.2:c.4270C>T	XP_011541133.1:p.Gln1424Ter
XM_011542832.1:c.2077C>T	XP_011541134.1:p.Gln693Ter
XM_011542833.1:c.1753C>T	XP_011541135.1:p.Gln585Ter
XM_011542833.2:c.1753C>T	XP_011541135.1:p.Gln585Ter