Canonical Allele Identifier: CA382826383

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118350916G>T (hg19) ; chr11:g.118480201G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118480201G>T , CM000673.2:g.118480201G>T	GRCh38
NC_000011.9:g.118350916G>T , CM000673.1:g.118350916G>T	GRCh37
NC_000011.8:g.117856126G>T	NCBI36
NG_027813.1:g.48712G>T , LRG_613:g.48712G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.3696G>T	ENSP00000432391.3:p.Trp1232Cys
ENST00000710560.1:c.3696G>T	ENSP00000518343.1:p.Trp1232Cys
ENST00000527869.7:c.1179G>T	ENSP00000432652.3:p.Trp393Cys
ENST00000533790.3:c.1080G>T	ENSP00000436700.3:p.Trp360Cys
ENST00000649690.2:c.1404G>T	ENSP00000497372.2:p.Trp468Cys
ENST00000685719.1:c.578G>T
ENST00000691053.1:c.3597G>T	ENSP00000509168.1:p.Trp1199Cys
ENST00000389506.10:c.3597G>T	ENSP00000374157.5:p.Trp1199Cys
ENST00000533790.2:c.849G>T	ENSP00000436700.2:p.Trp283Cys
ENST00000534358.8:c.3597G>T MANE Select	ENSP00000436786.2:p.Trp1199Cys
ENST00000648261.1:c.2367G>T	ENSP00000498126.1:p.Trp789Cys
ENST00000649699.1:c.3597G>T	ENSP00000496927.1:p.Trp1199Cys
ENST00000389506.9:c.3597G>T	ENSP00000374157.5:p.Trp1199Cys
ENST00000531904.6:c.3696G>T	ENSP00000432391.2:p.Trp1232Cys
ENST00000534358.5:c.3597G>T	ENSP00000436786.1:p.Trp1199Cys
NM_001197104.1:c.3597G>T , LRG_613t1:c.3597G>T	NP_001184033.1:p.Trp1199Cys
NM_005933.3:c.3597G>T	NP_005924.2:p.Trp1199Cys
XM_006718839.2:c.1080G>T	XP_006718902.2:p.Trp360Cys
XM_011542829.1:c.3696G>T	XP_011541131.1:p.Trp1232Cys
XM_011542830.1:c.3696G>T	XP_011541132.1:p.Trp1232Cys
XM_011542831.1:c.3696G>T	XP_011541133.1:p.Trp1232Cys
XM_011542832.1:c.1503G>T	XP_011541134.1:p.Trp501Cys
XM_011542833.1:c.1179G>T	XP_011541135.1:p.Trp393Cys
XM_006718839.3:c.1080G>T	XP_006718902.2:p.Trp360Cys
XM_011542829.2:c.3696G>T	XP_011541131.1:p.Trp1232Cys
XM_011542830.2:c.3696G>T	XP_011541132.1:p.Trp1232Cys
XM_011542831.2:c.3696G>T	XP_011541133.1:p.Trp1232Cys
XM_011542833.2:c.1179G>T	XP_011541135.1:p.Trp393Cys
NM_001197104.2:c.3597G>T MANE Select	NP_001184033.1:p.Trp1199Cys
NM_005933.4:c.3597G>T	NP_005924.2:p.Trp1199Cys