Canonical Allele Identifier: CA382802619

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134385185
• COSMIC: COSM1351646 ; COSM1351647
• MyVariant Identifiers: chr11:g.118373277A>G (hg19) ; chr11:g.118502562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502562A>G , CM000673.2:g.118502562A>G	GRCh38
NC_000011.9:g.118373277A>G , CM000673.1:g.118373277A>G	GRCh37
NC_000011.8:g.117878487A>G	NCBI36
NG_027813.1:g.71073A>G , LRG_613:g.71073A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.6769A>G	ENSP00000432391.3:p.Arg2257Gly
ENST00000710560.1:c.6760A>G	ENSP00000518343.1:p.Arg2254Gly
ENST00000649878.2:c.709A>G	ENSP00000497891.2:p.Arg237Gly
ENST00000685397.1:c.709A>G	ENSP00000509586.1:p.Arg237Gly
ENST00000686370.1:c.709A>G	ENSP00000509179.1:p.Arg237Gly
ENST00000689424.1:c.967A>G	ENSP00000509852.1:p.Arg323Gly
ENST00000691053.1:c.6742A>G	ENSP00000509168.1:p.Arg2248Gly
ENST00000389506.10:c.6661A>G	ENSP00000374157.5:p.Arg2221Gly
ENST00000528278.2:n.6012A>G
ENST00000534358.8:c.6670A>G MANE Select	ENSP00000436786.2:p.Arg2224Gly
ENST00000649699.1:c.6547A>G	ENSP00000496927.1:p.Arg2183Gly
ENST00000389506.9:c.6661A>G	ENSP00000374157.5:p.Arg2221Gly
ENST00000528278.1:n.797A>G
ENST00000534358.5:c.6670A>G	ENSP00000436786.1:p.Arg2224Gly
NM_001197104.1:c.6670A>G , LRG_613t1:c.6670A>G	NP_001184033.1:p.Arg2224Gly
NM_005933.3:c.6661A>G	NP_005924.2:p.Arg2221Gly
XM_006718839.2:c.4153A>G	XP_006718902.2:p.Arg1385Gly
XM_011542829.1:c.6769A>G	XP_011541131.1:p.Arg2257Gly
XM_011542830.1:c.6766A>G	XP_011541132.1:p.Arg2256Gly
XM_011542831.1:c.6760A>G	XP_011541133.1:p.Arg2254Gly
XM_011542832.1:c.4576A>G	XP_011541134.1:p.Arg1526Gly
XM_011542833.1:c.4252A>G	XP_011541135.1:p.Arg1418Gly
XM_006718839.3:c.4153A>G	XP_006718902.2:p.Arg1385Gly
XM_011542829.2:c.6769A>G	XP_011541131.1:p.Arg2257Gly
XM_011542830.2:c.6766A>G	XP_011541132.1:p.Arg2256Gly
XM_011542831.2:c.6760A>G	XP_011541133.1:p.Arg2254Gly
XM_011542833.2:c.4252A>G	XP_011541135.1:p.Arg1418Gly
NM_001197104.2:c.6670A>G MANE Select	NP_001184033.1:p.Arg2224Gly
NM_005933.4:c.6661A>G	NP_005924.2:p.Arg2221Gly