Canonical Allele Identifier: CA382830961

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118484944G>T , CM000673.2:g.118484944G>T	GRCh38
NC_000011.9:g.118355659G>T , CM000673.1:g.118355659G>T	GRCh37
NC_000011.8:g.117860869G>T	NCBI36
NG_027813.1:g.53455G>T , LRG_613:g.53455G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.4301G>T MANE Select	NP_001184033.1:p.Cys1434Phe
ENST00000534358.8:c.4301G>T MANE Select	ENSP00000436786.2:p.Cys1434Phe
NM_001197104.1:c.4301G>T , LRG_613t1:c.4301G>T	NP_001184033.1:p.Cys1434Phe
NM_005933.3:c.4301G>T	NP_005924.2:p.Cys1434Phe
NM_005933.4:c.4301G>T	NP_005924.2:p.Cys1434Phe
ENST00000389506.10:c.4301G>T	ENSP00000374157.5:p.Cys1434Phe
ENST00000389506.9:c.4301G>T	ENSP00000374157.5:p.Cys1434Phe
ENST00000392873.3:c.468+630G>T	ENSP00000376612.3:n.468+630G>T
ENST00000420751.4:c.212G>T	ENSP00000510776.1:p.Cys71Phe
ENST00000531904.7:c.4400G>T	ENSP00000432391.3:p.Cys1467Phe
ENST00000534358.5:c.4301G>T	ENSP00000436786.1:p.Cys1434Phe
ENST00000649699.1:c.4218+630G>T	ENSP00000496927.1:n.4218+630G>T
ENST00000685498.1:c.80G>T	ENSP00000509293.1:p.Cys27Phe
ENST00000685719.1:c.1208G>T
ENST00000691053.1:c.4301G>T	ENSP00000509168.1:p.Cys1434Phe
ENST00000710560.1:c.4400G>T	ENSP00000518343.1:p.Cys1467Phe
XM_006718839.2:c.1784G>T	XP_006718902.2:p.Cys595Phe
XM_006718839.3:c.1784G>T	XP_006718902.2:p.Cys595Phe
XM_011542829.1:c.4400G>T	XP_011541131.1:p.Cys1467Phe
XM_011542829.2:c.4400G>T	XP_011541131.1:p.Cys1467Phe
XM_011542830.1:c.4400G>T	XP_011541132.1:p.Cys1467Phe
XM_011542830.2:c.4400G>T	XP_011541132.1:p.Cys1467Phe
XM_011542831.1:c.4400G>T	XP_011541133.1:p.Cys1467Phe
XM_011542831.2:c.4400G>T	XP_011541133.1:p.Cys1467Phe
XM_011542832.1:c.2207G>T	XP_011541134.1:p.Cys736Phe
XM_011542833.1:c.1883G>T	XP_011541135.1:p.Cys628Phe
XM_011542833.2:c.1883G>T	XP_011541135.1:p.Cys628Phe