Canonical Allele Identifier: CA382802316

Gene: KMT2A

Linked Data

• dbSNP Id: rs377156559
• gnomAD v3: 11-118502481-C-A
• gnomAD v4: 11-118502481-C-A
• MyVariant Identifiers: chr11:g.118373196C>A (hg19) ; chr11:g.118502481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502481C>A , CM000673.2:g.118502481C>A	GRCh38
NC_000011.9:g.118373196C>A , CM000673.1:g.118373196C>A	GRCh37
NC_000011.8:g.117878406C>A	NCBI36
NG_027813.1:g.70992C>A , LRG_613:g.70992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.6688C>A	ENSP00000432391.3:p.Arg2230Ser
ENST00000710560.1:c.6679C>A	ENSP00000518343.1:p.Arg2227Ser
ENST00000649878.2:c.628C>A	ENSP00000497891.2:p.Arg210Ser
ENST00000685397.1:c.628C>A	ENSP00000509586.1:p.Arg210Ser
ENST00000686370.1:c.628C>A	ENSP00000509179.1:p.Arg210Ser
ENST00000689424.1:c.886C>A	ENSP00000509852.1:p.Arg296Ser
ENST00000691053.1:c.6661C>A	ENSP00000509168.1:p.Arg2221Ser
ENST00000389506.10:c.6580C>A	ENSP00000374157.5:p.Arg2194Ser
ENST00000528278.2:n.5931C>A
ENST00000534358.8:c.6589C>A MANE Select	ENSP00000436786.2:p.Arg2197Ser
ENST00000649699.1:c.6466C>A	ENSP00000496927.1:p.Arg2156Ser
ENST00000389506.9:c.6580C>A	ENSP00000374157.5:p.Arg2194Ser
ENST00000528278.1:n.716C>A
ENST00000534358.5:c.6589C>A	ENSP00000436786.1:p.Arg2197Ser
NM_001197104.1:c.6589C>A , LRG_613t1:c.6589C>A	NP_001184033.1:p.Arg2197Ser
NM_005933.3:c.6580C>A	NP_005924.2:p.Arg2194Ser
XM_006718839.2:c.4072C>A	XP_006718902.2:p.Arg1358Ser
XM_011542829.1:c.6688C>A	XP_011541131.1:p.Arg2230Ser
XM_011542830.1:c.6685C>A	XP_011541132.1:p.Arg2229Ser
XM_011542831.1:c.6679C>A	XP_011541133.1:p.Arg2227Ser
XM_011542832.1:c.4495C>A	XP_011541134.1:p.Arg1499Ser
XM_011542833.1:c.4171C>A	XP_011541135.1:p.Arg1391Ser
XM_006718839.3:c.4072C>A	XP_006718902.2:p.Arg1358Ser
XM_011542829.2:c.6688C>A	XP_011541131.1:p.Arg2230Ser
XM_011542830.2:c.6685C>A	XP_011541132.1:p.Arg2229Ser
XM_011542831.2:c.6679C>A	XP_011541133.1:p.Arg2227Ser
XM_011542833.2:c.4171C>A	XP_011541135.1:p.Arg1391Ser
NM_001197104.2:c.6589C>A MANE Select	NP_001184033.1:p.Arg2197Ser
NM_005933.4:c.6580C>A	NP_005924.2:p.Arg2194Ser