Canonical Allele Identifier: CA382805330

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 1422814
• ClinVar RCV Id: RCV001926255
• dbSNP Id: rs1950530695
• MyVariant Identifiers: chr11:g.118373988G>A (hg19) ; chr11:g.118503273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503273G>A , CM000673.2:g.118503273G>A	GRCh38
NC_000011.9:g.118373988G>A , CM000673.1:g.118373988G>A	GRCh37
NC_000011.8:g.117879198G>A	NCBI36
NG_027813.1:g.71784G>A , LRG_613:g.71784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7480G>A	ENSP00000432391.3:p.Gly2494Arg
ENST00000710560.1:c.7471G>A	ENSP00000518343.1:p.Gly2491Arg
ENST00000649878.2:c.1420G>A	ENSP00000497891.2:p.Gly474Arg
ENST00000685397.1:c.1420G>A	ENSP00000509586.1:p.Gly474Arg
ENST00000686370.1:c.1420G>A	ENSP00000509179.1:p.Gly474Arg
ENST00000689424.1:c.1678G>A	ENSP00000509852.1:p.Gly560Arg
ENST00000691053.1:c.7453G>A	ENSP00000509168.1:p.Gly2485Arg
ENST00000389506.10:c.7372G>A	ENSP00000374157.5:p.Gly2458Arg
ENST00000528278.2:n.6723G>A
ENST00000534358.8:c.7381G>A MANE Select	ENSP00000436786.2:p.Gly2461Arg
ENST00000649699.1:c.7258G>A	ENSP00000496927.1:p.Gly2420Arg
ENST00000389506.9:c.7372G>A	ENSP00000374157.5:p.Gly2458Arg
ENST00000528278.1:n.1508G>A
ENST00000534358.5:c.7381G>A	ENSP00000436786.1:p.Gly2461Arg
NM_001197104.1:c.7381G>A , LRG_613t1:c.7381G>A	NP_001184033.1:p.Gly2461Arg
NM_005933.3:c.7372G>A	NP_005924.2:p.Gly2458Arg
XM_006718839.2:c.4864G>A	XP_006718902.2:p.Gly1622Arg
XM_011542829.1:c.7480G>A	XP_011541131.1:p.Gly2494Arg
XM_011542830.1:c.7477G>A	XP_011541132.1:p.Gly2493Arg
XM_011542831.1:c.7471G>A	XP_011541133.1:p.Gly2491Arg
XM_011542832.1:c.5287G>A	XP_011541134.1:p.Gly1763Arg
XM_011542833.1:c.4963G>A	XP_011541135.1:p.Gly1655Arg
XM_006718839.3:c.4864G>A	XP_006718902.2:p.Gly1622Arg
XM_011542829.2:c.7480G>A	XP_011541131.1:p.Gly2494Arg
XM_011542830.2:c.7477G>A	XP_011541132.1:p.Gly2493Arg
XM_011542831.2:c.7471G>A	XP_011541133.1:p.Gly2491Arg
XM_011542833.2:c.4963G>A	XP_011541135.1:p.Gly1655Arg
NM_001197104.2:c.7381G>A MANE Select	NP_001184033.1:p.Gly2461Arg
NM_005933.4:c.7372G>A	NP_005924.2:p.Gly2458Arg