Canonical Allele Identifier: CA382802562

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134385063
• gnomAD v4: 11-118502547-G-A
• MyVariant Identifiers: chr11:g.118373262G>A (hg19) ; chr11:g.118502547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502547G>A , CM000673.2:g.118502547G>A	GRCh38
NC_000011.9:g.118373262G>A , CM000673.1:g.118373262G>A	GRCh37
NC_000011.8:g.117878472G>A	NCBI36
NG_027813.1:g.71058G>A , LRG_613:g.71058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.6754G>A	ENSP00000432391.3:p.Gly2252Arg
ENST00000710560.1:c.6745G>A	ENSP00000518343.1:p.Gly2249Arg
ENST00000649878.2:c.694G>A	ENSP00000497891.2:p.Gly232Arg
ENST00000685397.1:c.694G>A	ENSP00000509586.1:p.Gly232Arg
ENST00000686370.1:c.694G>A	ENSP00000509179.1:p.Gly232Arg
ENST00000689424.1:c.952G>A	ENSP00000509852.1:p.Gly318Arg
ENST00000691053.1:c.6727G>A	ENSP00000509168.1:p.Gly2243Arg
ENST00000389506.10:c.6646G>A	ENSP00000374157.5:p.Gly2216Arg
ENST00000528278.2:n.5997G>A
ENST00000534358.8:c.6655G>A MANE Select	ENSP00000436786.2:p.Gly2219Arg
ENST00000649699.1:c.6532G>A	ENSP00000496927.1:p.Gly2178Arg
ENST00000389506.9:c.6646G>A	ENSP00000374157.5:p.Gly2216Arg
ENST00000528278.1:n.782G>A
ENST00000534358.5:c.6655G>A	ENSP00000436786.1:p.Gly2219Arg
NM_001197104.1:c.6655G>A , LRG_613t1:c.6655G>A	NP_001184033.1:p.Gly2219Arg
NM_005933.3:c.6646G>A	NP_005924.2:p.Gly2216Arg
XM_006718839.2:c.4138G>A	XP_006718902.2:p.Gly1380Arg
XM_011542829.1:c.6754G>A	XP_011541131.1:p.Gly2252Arg
XM_011542830.1:c.6751G>A	XP_011541132.1:p.Gly2251Arg
XM_011542831.1:c.6745G>A	XP_011541133.1:p.Gly2249Arg
XM_011542832.1:c.4561G>A	XP_011541134.1:p.Gly1521Arg
XM_011542833.1:c.4237G>A	XP_011541135.1:p.Gly1413Arg
XM_006718839.3:c.4138G>A	XP_006718902.2:p.Gly1380Arg
XM_011542829.2:c.6754G>A	XP_011541131.1:p.Gly2252Arg
XM_011542830.2:c.6751G>A	XP_011541132.1:p.Gly2251Arg
XM_011542831.2:c.6745G>A	XP_011541133.1:p.Gly2249Arg
XM_011542833.2:c.4237G>A	XP_011541135.1:p.Gly1413Arg
NM_001197104.2:c.6655G>A MANE Select	NP_001184033.1:p.Gly2219Arg
NM_005933.4:c.6646G>A	NP_005924.2:p.Gly2216Arg