Canonical Allele Identifier: CA229531399

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 1384086
• ClinVar RCV Id: RCV001895734
• dbSNP Id: rs782281385
• gnomAD v2: 11-118361992-G-A
• gnomAD v3: 11-118491277-G-A
• gnomAD v4: 11-118491277-G-A
• COSMIC: COSM2105484 ; COSM2105485
• MyVariant Identifiers: chr11:g.118361992G>A (hg19) ; chr11:g.118491277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491277G>A , CM000673.2:g.118491277G>A	GRCh38
NC_000011.9:g.118361992G>A , CM000673.1:g.118361992G>A	GRCh37
NC_000011.8:g.117867202G>A	NCBI36
NG_027813.1:g.59788G>A , LRG_613:g.59788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.4877G>A	ENSP00000432391.3:p.Arg1626His
ENST00000710560.1:c.4877G>A	ENSP00000518343.1:p.Arg1626His
ENST00000685498.1:c.554G>A	ENSP00000509293.1:p.Arg185His
ENST00000691053.1:c.4778G>A	ENSP00000509168.1:p.Arg1593His
ENST00000389506.10:c.4778G>A	ENSP00000374157.5:p.Arg1593His
ENST00000534358.8:c.4778G>A MANE Select	ENSP00000436786.2:p.Arg1593His
ENST00000649699.1:c.4664G>A	ENSP00000496927.1:p.Arg1555His
ENST00000389506.9:c.4778G>A	ENSP00000374157.5:p.Arg1593His
ENST00000392873.3:c.914G>A	ENSP00000376612.3:p.Arg305His
ENST00000534358.5:c.4778G>A	ENSP00000436786.1:p.Arg1593His
NM_001197104.1:c.4778G>A , LRG_613t1:c.4778G>A	NP_001184033.1:p.Arg1593His
NM_005933.3:c.4778G>A	NP_005924.2:p.Arg1593His
XM_006718839.2:c.2261G>A	XP_006718902.2:p.Arg754His
XM_011542829.1:c.4877G>A	XP_011541131.1:p.Arg1626His
XM_011542830.1:c.4874G>A	XP_011541132.1:p.Arg1625His
XM_011542831.1:c.4877G>A	XP_011541133.1:p.Arg1626His
XM_011542832.1:c.2684G>A	XP_011541134.1:p.Arg895His
XM_011542833.1:c.2360G>A	XP_011541135.1:p.Arg787His
XM_006718839.3:c.2261G>A	XP_006718902.2:p.Arg754His
XM_011542829.2:c.4877G>A	XP_011541131.1:p.Arg1626His
XM_011542830.2:c.4874G>A	XP_011541132.1:p.Arg1625His
XM_011542831.2:c.4877G>A	XP_011541133.1:p.Arg1626His
XM_011542833.2:c.2360G>A	XP_011541135.1:p.Arg787His
NM_001197104.2:c.4778G>A MANE Select	NP_001184033.1:p.Arg1593His
NM_005933.4:c.4778G>A	NP_005924.2:p.Arg1593His