Canonical Allele Identifier: CA382802954

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118373374G>T (hg19) ; chr11:g.118502659G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502659G>T , CM000673.2:g.118502659G>T	GRCh38
NC_000011.9:g.118373374G>T , CM000673.1:g.118373374G>T	GRCh37
NC_000011.8:g.117878584G>T	NCBI36
NG_027813.1:g.71170G>T , LRG_613:g.71170G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.6866G>T	ENSP00000432391.3:p.Ser2289Ile
ENST00000710560.1:c.6857G>T	ENSP00000518343.1:p.Ser2286Ile
ENST00000649878.2:c.806G>T	ENSP00000497891.2:p.Ser269Ile
ENST00000685397.1:c.806G>T	ENSP00000509586.1:p.Ser269Ile
ENST00000686370.1:c.806G>T	ENSP00000509179.1:p.Ser269Ile
ENST00000689424.1:c.1064G>T	ENSP00000509852.1:p.Ser355Ile
ENST00000691053.1:c.6839G>T	ENSP00000509168.1:p.Ser2280Ile
ENST00000389506.10:c.6758G>T	ENSP00000374157.5:p.Ser2253Ile
ENST00000528278.2:n.6109G>T
ENST00000534358.8:c.6767G>T MANE Select	ENSP00000436786.2:p.Ser2256Ile
ENST00000649699.1:c.6644G>T	ENSP00000496927.1:p.Ser2215Ile
ENST00000389506.9:c.6758G>T	ENSP00000374157.5:p.Ser2253Ile
ENST00000528278.1:n.894G>T
ENST00000534358.5:c.6767G>T	ENSP00000436786.1:p.Ser2256Ile
NM_001197104.1:c.6767G>T , LRG_613t1:c.6767G>T	NP_001184033.1:p.Ser2256Ile
NM_005933.3:c.6758G>T	NP_005924.2:p.Ser2253Ile
XM_006718839.2:c.4250G>T	XP_006718902.2:p.Ser1417Ile
XM_011542829.1:c.6866G>T	XP_011541131.1:p.Ser2289Ile
XM_011542830.1:c.6863G>T	XP_011541132.1:p.Ser2288Ile
XM_011542831.1:c.6857G>T	XP_011541133.1:p.Ser2286Ile
XM_011542832.1:c.4673G>T	XP_011541134.1:p.Ser1558Ile
XM_011542833.1:c.4349G>T	XP_011541135.1:p.Ser1450Ile
XM_006718839.3:c.4250G>T	XP_006718902.2:p.Ser1417Ile
XM_011542829.2:c.6866G>T	XP_011541131.1:p.Ser2289Ile
XM_011542830.2:c.6863G>T	XP_011541132.1:p.Ser2288Ile
XM_011542831.2:c.6857G>T	XP_011541133.1:p.Ser2286Ile
XM_011542833.2:c.4349G>T	XP_011541135.1:p.Ser1450Ile
NM_001197104.2:c.6767G>T MANE Select	NP_001184033.1:p.Ser2256Ile
NM_005933.4:c.6758G>T	NP_005924.2:p.Ser2253Ile