Canonical Allele Identifier: CA382808069

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503867C>T , CM000673.2:g.118503867C>T	GRCh38
NC_000011.9:g.118374582C>T , CM000673.1:g.118374582C>T	GRCh37
NC_000011.8:g.117879792C>T	NCBI36
NG_027813.1:g.72378C>T , LRG_613:g.72378C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.7975C>T MANE Select	NP_001184033.1:p.Arg2659Ter
ENST00000534358.8:c.7975C>T MANE Select	ENSP00000436786.2:p.Arg2659Ter
NM_001197104.1:c.7975C>T , LRG_613t1:c.7975C>T	NP_001184033.1:p.Arg2659Ter
NM_005933.3:c.7966C>T	NP_005924.2:p.Arg2656Ter
NM_005933.4:c.7966C>T	NP_005924.2:p.Arg2656Ter
ENST00000389506.10:c.7966C>T	ENSP00000374157.5:p.Arg2656Ter
ENST00000389506.9:c.7966C>T	ENSP00000374157.5:p.Arg2656Ter
ENST00000528278.2:n.7317C>T
ENST00000531904.7:c.8074C>T	ENSP00000432391.3:p.Arg2692Ter
ENST00000534358.5:c.7975C>T	ENSP00000436786.1:p.Arg2659Ter
ENST00000649699.1:c.7852C>T	ENSP00000496927.1:p.Arg2618Ter
ENST00000649878.2:c.2014C>T	ENSP00000497891.2:p.Arg672Ter
ENST00000685397.1:c.2014C>T	ENSP00000509586.1:p.Arg672Ter
ENST00000686370.1:c.2014C>T	ENSP00000509179.1:p.Arg672Ter
ENST00000689424.1:c.2272C>T	ENSP00000509852.1:p.Arg758Ter
ENST00000691053.1:c.8047C>T	ENSP00000509168.1:p.Arg2683Ter
ENST00000710560.1:c.8065C>T	ENSP00000518343.1:p.Arg2689Ter
XM_006718839.2:c.5458C>T	XP_006718902.2:p.Arg1820Ter
XM_006718839.3:c.5458C>T	XP_006718902.2:p.Arg1820Ter
XM_011542829.1:c.8074C>T	XP_011541131.1:p.Arg2692Ter
XM_011542829.2:c.8074C>T	XP_011541131.1:p.Arg2692Ter
XM_011542830.1:c.8071C>T	XP_011541132.1:p.Arg2691Ter
XM_011542830.2:c.8071C>T	XP_011541132.1:p.Arg2691Ter
XM_011542831.1:c.8065C>T	XP_011541133.1:p.Arg2689Ter
XM_011542831.2:c.8065C>T	XP_011541133.1:p.Arg2689Ter
XM_011542832.1:c.5881C>T	XP_011541134.1:p.Arg1961Ter
XM_011542833.1:c.5557C>T	XP_011541135.1:p.Arg1853Ter
XM_011542833.2:c.5557C>T	XP_011541135.1:p.Arg1853Ter