Canonical Allele Identifier: CA382804964

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134390972
• COSMIC: COSM5609417 ; COSM5609418
• MyVariant Identifiers: chr11:g.118373893G>A (hg19) ; chr11:g.118503178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503178G>A , CM000673.2:g.118503178G>A	GRCh38
NC_000011.9:g.118373893G>A , CM000673.1:g.118373893G>A	GRCh37
NC_000011.8:g.117879103G>A	NCBI36
NG_027813.1:g.71689G>A , LRG_613:g.71689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7385G>A	ENSP00000432391.3:p.Arg2462Lys
ENST00000710560.1:c.7376G>A	ENSP00000518343.1:p.Arg2459Lys
ENST00000649878.2:c.1325G>A	ENSP00000497891.2:p.Arg442Lys
ENST00000685397.1:c.1325G>A	ENSP00000509586.1:p.Arg442Lys
ENST00000686370.1:c.1325G>A	ENSP00000509179.1:p.Arg442Lys
ENST00000689424.1:c.1583G>A	ENSP00000509852.1:p.Arg528Lys
ENST00000691053.1:c.7358G>A	ENSP00000509168.1:p.Arg2453Lys
ENST00000389506.10:c.7277G>A	ENSP00000374157.5:p.Arg2426Lys
ENST00000528278.2:n.6628G>A
ENST00000534358.8:c.7286G>A MANE Select	ENSP00000436786.2:p.Arg2429Lys
ENST00000649699.1:c.7163G>A	ENSP00000496927.1:p.Arg2388Lys
ENST00000389506.9:c.7277G>A	ENSP00000374157.5:p.Arg2426Lys
ENST00000528278.1:n.1413G>A
ENST00000534358.5:c.7286G>A	ENSP00000436786.1:p.Arg2429Lys
NM_001197104.1:c.7286G>A , LRG_613t1:c.7286G>A	NP_001184033.1:p.Arg2429Lys
NM_005933.3:c.7277G>A	NP_005924.2:p.Arg2426Lys
XM_006718839.2:c.4769G>A	XP_006718902.2:p.Arg1590Lys
XM_011542829.1:c.7385G>A	XP_011541131.1:p.Arg2462Lys
XM_011542830.1:c.7382G>A	XP_011541132.1:p.Arg2461Lys
XM_011542831.1:c.7376G>A	XP_011541133.1:p.Arg2459Lys
XM_011542832.1:c.5192G>A	XP_011541134.1:p.Arg1731Lys
XM_011542833.1:c.4868G>A	XP_011541135.1:p.Arg1623Lys
XM_006718839.3:c.4769G>A	XP_006718902.2:p.Arg1590Lys
XM_011542829.2:c.7385G>A	XP_011541131.1:p.Arg2462Lys
XM_011542830.2:c.7382G>A	XP_011541132.1:p.Arg2461Lys
XM_011542831.2:c.7376G>A	XP_011541133.1:p.Arg2459Lys
XM_011542833.2:c.4868G>A	XP_011541135.1:p.Arg1623Lys
NM_001197104.2:c.7286G>A MANE Select	NP_001184033.1:p.Arg2429Lys
NM_005933.4:c.7277G>A	NP_005924.2:p.Arg2426Lys