Canonical Allele Identifier: CA382806020

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 1414285
• ClinVar RCV Id: RCV001930411
• dbSNP Id: rs1555046685
• gnomAD v2: 11-118374169-G-A
• gnomAD v3: 11-118503454-G-A
• gnomAD v4: 11-118503454-G-A
• COSMIC: COSM6237750 ; COSM6237751
• MyVariant Identifiers: chr11:g.118374169G>A (hg19) ; chr11:g.118503454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503454G>A , CM000673.2:g.118503454G>A	GRCh38
NC_000011.9:g.118374169G>A , CM000673.1:g.118374169G>A	GRCh37
NC_000011.8:g.117879379G>A	NCBI36
NG_027813.1:g.71965G>A , LRG_613:g.71965G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7661G>A	ENSP00000432391.3:p.Arg2554His
ENST00000710560.1:c.7652G>A	ENSP00000518343.1:p.Arg2551His
ENST00000649878.2:c.1601G>A	ENSP00000497891.2:p.Arg534His
ENST00000685397.1:c.1601G>A	ENSP00000509586.1:p.Arg534His
ENST00000686370.1:c.1601G>A	ENSP00000509179.1:p.Arg534His
ENST00000689424.1:c.1859G>A	ENSP00000509852.1:p.Arg620His
ENST00000691053.1:c.7634G>A	ENSP00000509168.1:p.Arg2545His
ENST00000389506.10:c.7553G>A	ENSP00000374157.5:p.Arg2518His
ENST00000528278.2:n.6904G>A
ENST00000534358.8:c.7562G>A MANE Select	ENSP00000436786.2:p.Arg2521His
ENST00000649699.1:c.7439G>A	ENSP00000496927.1:p.Arg2480His
ENST00000389506.9:c.7553G>A	ENSP00000374157.5:p.Arg2518His
ENST00000528278.1:n.1689G>A
ENST00000534358.5:c.7562G>A	ENSP00000436786.1:p.Arg2521His
NM_001197104.1:c.7562G>A , LRG_613t1:c.7562G>A	NP_001184033.1:p.Arg2521His
NM_005933.3:c.7553G>A	NP_005924.2:p.Arg2518His
XM_006718839.2:c.5045G>A	XP_006718902.2:p.Arg1682His
XM_011542829.1:c.7661G>A	XP_011541131.1:p.Arg2554His
XM_011542830.1:c.7658G>A	XP_011541132.1:p.Arg2553His
XM_011542831.1:c.7652G>A	XP_011541133.1:p.Arg2551His
XM_011542832.1:c.5468G>A	XP_011541134.1:p.Arg1823His
XM_011542833.1:c.5144G>A	XP_011541135.1:p.Arg1715His
XM_006718839.3:c.5045G>A	XP_006718902.2:p.Arg1682His
XM_011542829.2:c.7661G>A	XP_011541131.1:p.Arg2554His
XM_011542830.2:c.7658G>A	XP_011541132.1:p.Arg2553His
XM_011542831.2:c.7652G>A	XP_011541133.1:p.Arg2551His
XM_011542833.2:c.5144G>A	XP_011541135.1:p.Arg1715His
NM_001197104.2:c.7562G>A MANE Select	NP_001184033.1:p.Arg2521His
NM_005933.4:c.7553G>A	NP_005924.2:p.Arg2518His