Canonical Allele Identifier: CA6304283

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 2869976
• ClinVar RCV Id: RCV003700967
• dbSNP Id: rs150570074
• ExAC: 11:118373226 C / A
• gnomAD v4: 11-118502511-C-A
• MyVariant Identifiers: chr11:g.118373226C>A (hg19) ; chr11:g.118502511C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502511C>A , CM000673.2:g.118502511C>A	GRCh38
NC_000011.9:g.118373226C>A , CM000673.1:g.118373226C>A	GRCh37
NC_000011.8:g.117878436C>A	NCBI36
NG_027813.1:g.71022C>A , LRG_613:g.71022C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.6718C>A	ENSP00000432391.3:p.Arg2240=
ENST00000710560.1:c.6709C>A	ENSP00000518343.1:p.Arg2237=
ENST00000649878.2:c.658C>A	ENSP00000497891.2:p.Arg220=
ENST00000685397.1:c.658C>A	ENSP00000509586.1:p.Arg220=
ENST00000686370.1:c.658C>A	ENSP00000509179.1:p.Arg220=
ENST00000689424.1:c.916C>A	ENSP00000509852.1:p.Arg306=
ENST00000691053.1:c.6691C>A	ENSP00000509168.1:p.Arg2231=
ENST00000389506.10:c.6610C>A	ENSP00000374157.5:p.Arg2204=
ENST00000528278.2:n.5961C>A
ENST00000534358.8:c.6619C>A MANE Select	ENSP00000436786.2:p.Arg2207=
ENST00000649699.1:c.6496C>A	ENSP00000496927.1:p.Arg2166=
ENST00000389506.9:c.6610C>A	ENSP00000374157.5:p.Arg2204=
ENST00000528278.1:n.746C>A
ENST00000534358.5:c.6619C>A	ENSP00000436786.1:p.Arg2207=
NM_001197104.1:c.6619C>A , LRG_613t1:c.6619C>A	NP_001184033.1:p.Arg2207=
NM_005933.3:c.6610C>A	NP_005924.2:p.Arg2204=
XM_006718839.2:c.4102C>A	XP_006718902.2:p.Arg1368=
XM_011542829.1:c.6718C>A	XP_011541131.1:p.Arg2240=
XM_011542830.1:c.6715C>A	XP_011541132.1:p.Arg2239=
XM_011542831.1:c.6709C>A	XP_011541133.1:p.Arg2237=
XM_011542832.1:c.4525C>A	XP_011541134.1:p.Arg1509=
XM_011542833.1:c.4201C>A	XP_011541135.1:p.Arg1401=
XM_006718839.3:c.4102C>A	XP_006718902.2:p.Arg1368=
XM_011542829.2:c.6718C>A	XP_011541131.1:p.Arg2240=
XM_011542830.2:c.6715C>A	XP_011541132.1:p.Arg2239=
XM_011542831.2:c.6709C>A	XP_011541133.1:p.Arg2237=
XM_011542833.2:c.4201C>A	XP_011541135.1:p.Arg1401=
NM_001197104.2:c.6619C>A MANE Select	NP_001184033.1:p.Arg2207=
NM_005933.4:c.6610C>A	NP_005924.2:p.Arg2204=