Canonical Allele Identifier: CA382802623

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118502563-G-A
• MyVariant Identifiers: chr11:g.118373278G>A (hg19) ; chr11:g.118502563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502563G>A , CM000673.2:g.118502563G>A	GRCh38
NC_000011.9:g.118373278G>A , CM000673.1:g.118373278G>A	GRCh37
NC_000011.8:g.117878488G>A	NCBI36
NG_027813.1:g.71074G>A , LRG_613:g.71074G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.6770G>A	ENSP00000432391.3:p.Arg2257Lys
ENST00000710560.1:c.6761G>A	ENSP00000518343.1:p.Arg2254Lys
ENST00000649878.2:c.710G>A	ENSP00000497891.2:p.Arg237Lys
ENST00000685397.1:c.710G>A	ENSP00000509586.1:p.Arg237Lys
ENST00000686370.1:c.710G>A	ENSP00000509179.1:p.Arg237Lys
ENST00000689424.1:c.968G>A	ENSP00000509852.1:p.Arg323Lys
ENST00000691053.1:c.6743G>A	ENSP00000509168.1:p.Arg2248Lys
ENST00000389506.10:c.6662G>A	ENSP00000374157.5:p.Arg2221Lys
ENST00000528278.2:n.6013G>A
ENST00000534358.8:c.6671G>A MANE Select	ENSP00000436786.2:p.Arg2224Lys
ENST00000649699.1:c.6548G>A	ENSP00000496927.1:p.Arg2183Lys
ENST00000389506.9:c.6662G>A	ENSP00000374157.5:p.Arg2221Lys
ENST00000528278.1:n.798G>A
ENST00000534358.5:c.6671G>A	ENSP00000436786.1:p.Arg2224Lys
NM_001197104.1:c.6671G>A , LRG_613t1:c.6671G>A	NP_001184033.1:p.Arg2224Lys
NM_005933.3:c.6662G>A	NP_005924.2:p.Arg2221Lys
XM_006718839.2:c.4154G>A	XP_006718902.2:p.Arg1385Lys
XM_011542829.1:c.6770G>A	XP_011541131.1:p.Arg2257Lys
XM_011542830.1:c.6767G>A	XP_011541132.1:p.Arg2256Lys
XM_011542831.1:c.6761G>A	XP_011541133.1:p.Arg2254Lys
XM_011542832.1:c.4577G>A	XP_011541134.1:p.Arg1526Lys
XM_011542833.1:c.4253G>A	XP_011541135.1:p.Arg1418Lys
XM_006718839.3:c.4154G>A	XP_006718902.2:p.Arg1385Lys
XM_011542829.2:c.6770G>A	XP_011541131.1:p.Arg2257Lys
XM_011542830.2:c.6767G>A	XP_011541132.1:p.Arg2256Lys
XM_011542831.2:c.6761G>A	XP_011541133.1:p.Arg2254Lys
XM_011542833.2:c.4253G>A	XP_011541135.1:p.Arg1418Lys
NM_001197104.2:c.6671G>A MANE Select	NP_001184033.1:p.Arg2224Lys
NM_005933.4:c.6662G>A	NP_005924.2:p.Arg2221Lys