Canonical Allele Identifier: CA382802312

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118373195G>C (hg19) ; chr11:g.118502480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502480G>C , CM000673.2:g.118502480G>C	GRCh38
NC_000011.9:g.118373195G>C , CM000673.1:g.118373195G>C	GRCh37
NC_000011.8:g.117878405G>C	NCBI36
NG_027813.1:g.70991G>C , LRG_613:g.70991G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.6687G>C	ENSP00000432391.3:p.Arg2229Ser
ENST00000710560.1:c.6678G>C	ENSP00000518343.1:p.Arg2226Ser
ENST00000649878.2:c.627G>C	ENSP00000497891.2:p.Arg209Ser
ENST00000685397.1:c.627G>C	ENSP00000509586.1:p.Arg209Ser
ENST00000686370.1:c.627G>C	ENSP00000509179.1:p.Arg209Ser
ENST00000689424.1:c.885G>C	ENSP00000509852.1:p.Arg295Ser
ENST00000691053.1:c.6660G>C	ENSP00000509168.1:p.Arg2220Ser
ENST00000389506.10:c.6579G>C	ENSP00000374157.5:p.Arg2193Ser
ENST00000528278.2:n.5930G>C
ENST00000534358.8:c.6588G>C MANE Select	ENSP00000436786.2:p.Arg2196Ser
ENST00000649699.1:c.6465G>C	ENSP00000496927.1:p.Arg2155Ser
ENST00000389506.9:c.6579G>C	ENSP00000374157.5:p.Arg2193Ser
ENST00000528278.1:n.715G>C
ENST00000534358.5:c.6588G>C	ENSP00000436786.1:p.Arg2196Ser
NM_001197104.1:c.6588G>C , LRG_613t1:c.6588G>C	NP_001184033.1:p.Arg2196Ser
NM_005933.3:c.6579G>C	NP_005924.2:p.Arg2193Ser
XM_006718839.2:c.4071G>C	XP_006718902.2:p.Arg1357Ser
XM_011542829.1:c.6687G>C	XP_011541131.1:p.Arg2229Ser
XM_011542830.1:c.6684G>C	XP_011541132.1:p.Arg2228Ser
XM_011542831.1:c.6678G>C	XP_011541133.1:p.Arg2226Ser
XM_011542832.1:c.4494G>C	XP_011541134.1:p.Arg1498Ser
XM_011542833.1:c.4170G>C	XP_011541135.1:p.Arg1390Ser
XM_006718839.3:c.4071G>C	XP_006718902.2:p.Arg1357Ser
XM_011542829.2:c.6687G>C	XP_011541131.1:p.Arg2229Ser
XM_011542830.2:c.6684G>C	XP_011541132.1:p.Arg2228Ser
XM_011542831.2:c.6678G>C	XP_011541133.1:p.Arg2226Ser
XM_011542833.2:c.4170G>C	XP_011541135.1:p.Arg1390Ser
NM_001197104.2:c.6588G>C MANE Select	NP_001184033.1:p.Arg2196Ser
NM_005933.4:c.6579G>C	NP_005924.2:p.Arg2193Ser