Canonical Allele Identifier: CA382838632

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118495767C>T , CM000673.2:g.118495767C>T	GRCh38
NC_000011.9:g.118366482C>T , CM000673.1:g.118366482C>T	GRCh37
NC_000011.8:g.117871692C>T	NCBI36
NG_027813.1:g.64278C>T , LRG_613:g.64278C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.5431C>T MANE Select	NP_001184033.1:p.Arg1811Ter
ENST00000534358.8:c.5431C>T MANE Select	ENSP00000436786.2:p.Arg1811Ter
NM_001197104.1:c.5431C>T , LRG_613t1:c.5431C>T	NP_001184033.1:p.Arg1811Ter
NM_005933.3:c.5422C>T	NP_005924.2:p.Arg1808Ter
NM_005933.4:c.5422C>T	NP_005924.2:p.Arg1808Ter
ENST00000389506.10:c.5422C>T	ENSP00000374157.5:p.Arg1808Ter
ENST00000389506.9:c.5422C>T	ENSP00000374157.5:p.Arg1808Ter
ENST00000528278.2:n.577C>T
ENST00000531904.7:c.5530C>T	ENSP00000432391.3:p.Arg1844Ter
ENST00000534358.5:c.5431C>T	ENSP00000436786.1:p.Arg1811Ter
ENST00000649699.1:c.5308C>T	ENSP00000496927.1:p.Arg1770Ter
ENST00000691002.1:c.368C>T
ENST00000691053.1:c.5422C>T	ENSP00000509168.1:p.Arg1808Ter
ENST00000693536.1:c.313C>T
ENST00000710560.1:c.5521C>T	ENSP00000518343.1:p.Arg1841Ter
XM_006718839.2:c.2914C>T	XP_006718902.2:p.Arg972Ter
XM_006718839.3:c.2914C>T	XP_006718902.2:p.Arg972Ter
XM_011542829.1:c.5530C>T	XP_011541131.1:p.Arg1844Ter
XM_011542829.2:c.5530C>T	XP_011541131.1:p.Arg1844Ter
XM_011542830.1:c.5527C>T	XP_011541132.1:p.Arg1843Ter
XM_011542830.2:c.5527C>T	XP_011541132.1:p.Arg1843Ter
XM_011542831.1:c.5521C>T	XP_011541133.1:p.Arg1841Ter
XM_011542831.2:c.5521C>T	XP_011541133.1:p.Arg1841Ter
XM_011542832.1:c.3337C>T	XP_011541134.1:p.Arg1113Ter
XM_011542833.1:c.3013C>T	XP_011541135.1:p.Arg1005Ter
XM_011542833.2:c.3013C>T	XP_011541135.1:p.Arg1005Ter