Canonical Allele Identifier: CA229526775

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 3011164
• ClinVar RCV Id: RCV003869827
• dbSNP Id: rs954292012
• gnomAD v4: 11-118503222-C-T
• MyVariant Identifiers: chr11:g.118373937C>T (hg19) ; chr11:g.118503222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503222C>T , CM000673.2:g.118503222C>T	GRCh38
NC_000011.9:g.118373937C>T , CM000673.1:g.118373937C>T	GRCh37
NC_000011.8:g.117879147C>T	NCBI36
NG_027813.1:g.71733C>T , LRG_613:g.71733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7429C>T	ENSP00000432391.3:p.His2477Tyr
ENST00000710560.1:c.7420C>T	ENSP00000518343.1:p.His2474Tyr
ENST00000649878.2:c.1369C>T	ENSP00000497891.2:p.His457Tyr
ENST00000685397.1:c.1369C>T	ENSP00000509586.1:p.His457Tyr
ENST00000686370.1:c.1369C>T	ENSP00000509179.1:p.His457Tyr
ENST00000689424.1:c.1627C>T	ENSP00000509852.1:p.His543Tyr
ENST00000691053.1:c.7402C>T	ENSP00000509168.1:p.His2468Tyr
ENST00000389506.10:c.7321C>T	ENSP00000374157.5:p.His2441Tyr
ENST00000528278.2:n.6672C>T
ENST00000534358.8:c.7330C>T MANE Select	ENSP00000436786.2:p.His2444Tyr
ENST00000649699.1:c.7207C>T	ENSP00000496927.1:p.His2403Tyr
ENST00000389506.9:c.7321C>T	ENSP00000374157.5:p.His2441Tyr
ENST00000528278.1:n.1457C>T
ENST00000534358.5:c.7330C>T	ENSP00000436786.1:p.His2444Tyr
NM_001197104.1:c.7330C>T , LRG_613t1:c.7330C>T	NP_001184033.1:p.His2444Tyr
NM_005933.3:c.7321C>T	NP_005924.2:p.His2441Tyr
XM_006718839.2:c.4813C>T	XP_006718902.2:p.His1605Tyr
XM_011542829.1:c.7429C>T	XP_011541131.1:p.His2477Tyr
XM_011542830.1:c.7426C>T	XP_011541132.1:p.His2476Tyr
XM_011542831.1:c.7420C>T	XP_011541133.1:p.His2474Tyr
XM_011542832.1:c.5236C>T	XP_011541134.1:p.His1746Tyr
XM_011542833.1:c.4912C>T	XP_011541135.1:p.His1638Tyr
XM_006718839.3:c.4813C>T	XP_006718902.2:p.His1605Tyr
XM_011542829.2:c.7429C>T	XP_011541131.1:p.His2477Tyr
XM_011542830.2:c.7426C>T	XP_011541132.1:p.His2476Tyr
XM_011542831.2:c.7420C>T	XP_011541133.1:p.His2474Tyr
XM_011542833.2:c.4912C>T	XP_011541135.1:p.His1638Tyr
NM_001197104.2:c.7330C>T MANE Select	NP_001184033.1:p.His2444Tyr
NM_005933.4:c.7321C>T	NP_005924.2:p.His2441Tyr