Canonical Allele Identifier: CA382834420

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 1721841
• ClinVar RCV Id: RCV002302201
• gnomAD v4: 11-118491268-A-G
• COSMIC: COSM4384595 ; COSM4384596
• MyVariant Identifiers: chr11:g.118361983A>G (hg19) ; chr11:g.118491268A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491268A>G , CM000673.2:g.118491268A>G	GRCh38
NC_000011.9:g.118361983A>G , CM000673.1:g.118361983A>G	GRCh37
NC_000011.8:g.117867193A>G	NCBI36
NG_027813.1:g.59779A>G , LRG_613:g.59779A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.4868A>G	ENSP00000432391.3:p.Lys1623Arg
ENST00000710560.1:c.4868A>G	ENSP00000518343.1:p.Lys1623Arg
ENST00000685498.1:c.545A>G	ENSP00000509293.1:p.Lys182Arg
ENST00000691053.1:c.4769A>G	ENSP00000509168.1:p.Lys1590Arg
ENST00000389506.10:c.4769A>G	ENSP00000374157.5:p.Lys1590Arg
ENST00000534358.8:c.4769A>G MANE Select	ENSP00000436786.2:p.Lys1590Arg
ENST00000649699.1:c.4655A>G	ENSP00000496927.1:p.Lys1552Arg
ENST00000389506.9:c.4769A>G	ENSP00000374157.5:p.Lys1590Arg
ENST00000392873.3:c.905A>G	ENSP00000376612.3:p.Lys302Arg
ENST00000534358.5:c.4769A>G	ENSP00000436786.1:p.Lys1590Arg
NM_001197104.1:c.4769A>G , LRG_613t1:c.4769A>G	NP_001184033.1:p.Lys1590Arg
NM_005933.3:c.4769A>G	NP_005924.2:p.Lys1590Arg
XM_006718839.2:c.2252A>G	XP_006718902.2:p.Lys751Arg
XM_011542829.1:c.4868A>G	XP_011541131.1:p.Lys1623Arg
XM_011542830.1:c.4865A>G	XP_011541132.1:p.Lys1622Arg
XM_011542831.1:c.4868A>G	XP_011541133.1:p.Lys1623Arg
XM_011542832.1:c.2675A>G	XP_011541134.1:p.Lys892Arg
XM_011542833.1:c.2351A>G	XP_011541135.1:p.Lys784Arg
XM_006718839.3:c.2252A>G	XP_006718902.2:p.Lys751Arg
XM_011542829.2:c.4868A>G	XP_011541131.1:p.Lys1623Arg
XM_011542830.2:c.4865A>G	XP_011541132.1:p.Lys1622Arg
XM_011542831.2:c.4868A>G	XP_011541133.1:p.Lys1623Arg
XM_011542833.2:c.2351A>G	XP_011541135.1:p.Lys784Arg
NM_001197104.2:c.4769A>G MANE Select	NP_001184033.1:p.Lys1590Arg
NM_005933.4:c.4769A>G	NP_005924.2:p.Lys1590Arg