Canonical Allele Identifier: CA382802425

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118373224A>T (hg19) ; chr11:g.118502509A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502509A>T , CM000673.2:g.118502509A>T	GRCh38
NC_000011.9:g.118373224A>T , CM000673.1:g.118373224A>T	GRCh37
NC_000011.8:g.117878434A>T	NCBI36
NG_027813.1:g.71020A>T , LRG_613:g.71020A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.6716A>T	ENSP00000432391.3:p.Gln2239Leu
ENST00000710560.1:c.6707A>T	ENSP00000518343.1:p.Gln2236Leu
ENST00000649878.2:c.656A>T	ENSP00000497891.2:p.Gln219Leu
ENST00000685397.1:c.656A>T	ENSP00000509586.1:p.Gln219Leu
ENST00000686370.1:c.656A>T	ENSP00000509179.1:p.Gln219Leu
ENST00000689424.1:c.914A>T	ENSP00000509852.1:p.Gln305Leu
ENST00000691053.1:c.6689A>T	ENSP00000509168.1:p.Gln2230Leu
ENST00000389506.10:c.6608A>T	ENSP00000374157.5:p.Gln2203Leu
ENST00000528278.2:n.5959A>T
ENST00000534358.8:c.6617A>T MANE Select	ENSP00000436786.2:p.Gln2206Leu
ENST00000649699.1:c.6494A>T	ENSP00000496927.1:p.Gln2165Leu
ENST00000389506.9:c.6608A>T	ENSP00000374157.5:p.Gln2203Leu
ENST00000528278.1:n.744A>T
ENST00000534358.5:c.6617A>T	ENSP00000436786.1:p.Gln2206Leu
NM_001197104.1:c.6617A>T , LRG_613t1:c.6617A>T	NP_001184033.1:p.Gln2206Leu
NM_005933.3:c.6608A>T	NP_005924.2:p.Gln2203Leu
XM_006718839.2:c.4100A>T	XP_006718902.2:p.Gln1367Leu
XM_011542829.1:c.6716A>T	XP_011541131.1:p.Gln2239Leu
XM_011542830.1:c.6713A>T	XP_011541132.1:p.Gln2238Leu
XM_011542831.1:c.6707A>T	XP_011541133.1:p.Gln2236Leu
XM_011542832.1:c.4523A>T	XP_011541134.1:p.Gln1508Leu
XM_011542833.1:c.4199A>T	XP_011541135.1:p.Gln1400Leu
XM_006718839.3:c.4100A>T	XP_006718902.2:p.Gln1367Leu
XM_011542829.2:c.6716A>T	XP_011541131.1:p.Gln2239Leu
XM_011542830.2:c.6713A>T	XP_011541132.1:p.Gln2238Leu
XM_011542831.2:c.6707A>T	XP_011541133.1:p.Gln2236Leu
XM_011542833.2:c.4199A>T	XP_011541135.1:p.Gln1400Leu
NM_001197104.2:c.6617A>T MANE Select	NP_001184033.1:p.Gln2206Leu
NM_005933.4:c.6608A>T	NP_005924.2:p.Gln2203Leu