Canonical Allele Identifier: CA10603139

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118494360A>T , CM000673.2:g.118494360A>T	GRCh38
NC_000011.9:g.118365075A>T , CM000673.1:g.118365075A>T	GRCh37
NC_000011.8:g.117870285A>T	NCBI36
NG_027813.1:g.62871A>T , LRG_613:g.62871A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.5251A>T MANE Select	NP_001184033.1:p.Lys1751Ter
ENST00000534358.8:c.5251A>T MANE Select	ENSP00000436786.2:p.Lys1751Ter
NM_001197104.1:c.5251A>T , LRG_613t1:c.5251A>T	NP_001184033.1:p.Lys1751Ter
NM_005933.3:c.5242A>T	NP_005924.2:p.Lys1748Ter
NM_005933.4:c.5242A>T	NP_005924.2:p.Lys1748Ter
ENST00000389506.10:c.5242A>T	ENSP00000374157.5:p.Lys1748Ter
ENST00000389506.9:c.5242A>T	ENSP00000374157.5:p.Lys1748Ter
ENST00000531904.7:c.5350A>T	ENSP00000432391.3:p.Lys1784Ter
ENST00000534358.5:c.5251A>T	ENSP00000436786.1:p.Lys1751Ter
ENST00000649699.1:c.5128A>T	ENSP00000496927.1:p.Lys1710Ter
ENST00000688355.1:c.376A>T
ENST00000691002.1:c.191A>T
ENST00000691053.1:c.5242A>T	ENSP00000509168.1:p.Lys1748Ter
ENST00000693536.1:c.191A>T
ENST00000710560.1:c.5341A>T	ENSP00000518343.1:p.Lys1781Ter
XM_006718839.2:c.2734A>T	XP_006718902.2:p.Lys912Ter
XM_006718839.3:c.2734A>T	XP_006718902.2:p.Lys912Ter
XM_011542829.1:c.5350A>T	XP_011541131.1:p.Lys1784Ter
XM_011542829.2:c.5350A>T	XP_011541131.1:p.Lys1784Ter
XM_011542830.1:c.5347A>T	XP_011541132.1:p.Lys1783Ter
XM_011542830.2:c.5347A>T	XP_011541132.1:p.Lys1783Ter
XM_011542831.1:c.5341A>T	XP_011541133.1:p.Lys1781Ter
XM_011542831.2:c.5341A>T	XP_011541133.1:p.Lys1781Ter
XM_011542832.1:c.3157A>T	XP_011541134.1:p.Lys1053Ter
XM_011542833.1:c.2833A>T	XP_011541135.1:p.Lys945Ter
XM_011542833.2:c.2833A>T	XP_011541135.1:p.Lys945Ter