Canonical Allele Identifier: CA382805291

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118373977C>T (hg19) ; chr11:g.118503262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503262C>T , CM000673.2:g.118503262C>T	GRCh38
NC_000011.9:g.118373977C>T , CM000673.1:g.118373977C>T	GRCh37
NC_000011.8:g.117879187C>T	NCBI36
NG_027813.1:g.71773C>T , LRG_613:g.71773C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7469C>T	ENSP00000432391.3:p.Thr2490Ile
ENST00000710560.1:c.7460C>T	ENSP00000518343.1:p.Thr2487Ile
ENST00000649878.2:c.1409C>T	ENSP00000497891.2:p.Thr470Ile
ENST00000685397.1:c.1409C>T	ENSP00000509586.1:p.Thr470Ile
ENST00000686370.1:c.1409C>T	ENSP00000509179.1:p.Thr470Ile
ENST00000689424.1:c.1667C>T	ENSP00000509852.1:p.Thr556Ile
ENST00000691053.1:c.7442C>T	ENSP00000509168.1:p.Thr2481Ile
ENST00000389506.10:c.7361C>T	ENSP00000374157.5:p.Thr2454Ile
ENST00000528278.2:n.6712C>T
ENST00000534358.8:c.7370C>T MANE Select	ENSP00000436786.2:p.Thr2457Ile
ENST00000649699.1:c.7247C>T	ENSP00000496927.1:p.Thr2416Ile
ENST00000389506.9:c.7361C>T	ENSP00000374157.5:p.Thr2454Ile
ENST00000528278.1:n.1497C>T
ENST00000534358.5:c.7370C>T	ENSP00000436786.1:p.Thr2457Ile
NM_001197104.1:c.7370C>T , LRG_613t1:c.7370C>T	NP_001184033.1:p.Thr2457Ile
NM_005933.3:c.7361C>T	NP_005924.2:p.Thr2454Ile
XM_006718839.2:c.4853C>T	XP_006718902.2:p.Thr1618Ile
XM_011542829.1:c.7469C>T	XP_011541131.1:p.Thr2490Ile
XM_011542830.1:c.7466C>T	XP_011541132.1:p.Thr2489Ile
XM_011542831.1:c.7460C>T	XP_011541133.1:p.Thr2487Ile
XM_011542832.1:c.5276C>T	XP_011541134.1:p.Thr1759Ile
XM_011542833.1:c.4952C>T	XP_011541135.1:p.Thr1651Ile
XM_006718839.3:c.4853C>T	XP_006718902.2:p.Thr1618Ile
XM_011542829.2:c.7469C>T	XP_011541131.1:p.Thr2490Ile
XM_011542830.2:c.7466C>T	XP_011541132.1:p.Thr2489Ile
XM_011542831.2:c.7460C>T	XP_011541133.1:p.Thr2487Ile
XM_011542833.2:c.4952C>T	XP_011541135.1:p.Thr1651Ile
NM_001197104.2:c.7370C>T MANE Select	NP_001184033.1:p.Thr2457Ile
NM_005933.4:c.7361C>T	NP_005924.2:p.Thr2454Ile