Canonical Allele Identifier: CA477359926

Gene: KMT2A

Linked Data

• dbSNP Id: rs1555046731
• gnomAD v2: 11-118374269-G-A
• gnomAD v4: 11-118503554-G-A
• MyVariant Identifiers: chr11:g.118374269G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503554G>A , CM000673.2:g.118503554G>A	GRCh38
NC_000011.9:g.118374269G>A , CM000673.1:g.118374269G>A	GRCh37
NC_000011.8:g.117879479G>A	NCBI36
NG_027813.1:g.72065G>A , LRG_613:g.72065G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7761G>A	ENSP00000432391.3:p.Glu2587=
ENST00000710560.1:c.7752G>A	ENSP00000518343.1:p.Glu2584=
ENST00000649878.2:c.1701G>A	ENSP00000497891.2:p.Glu567=
ENST00000685397.1:c.1701G>A	ENSP00000509586.1:p.Glu567=
ENST00000686370.1:c.1701G>A	ENSP00000509179.1:p.Glu567=
ENST00000689424.1:c.1959G>A	ENSP00000509852.1:p.Glu653=
ENST00000691053.1:c.7734G>A	ENSP00000509168.1:p.Glu2578=
ENST00000389506.10:c.7653G>A	ENSP00000374157.5:p.Glu2551=
ENST00000528278.2:n.7004G>A
ENST00000534358.8:c.7662G>A MANE Select	ENSP00000436786.2:p.Glu2554=
ENST00000649699.1:c.7539G>A	ENSP00000496927.1:p.Glu2513=
ENST00000389506.9:c.7653G>A	ENSP00000374157.5:p.Glu2551=
ENST00000528278.1:n.1789G>A
ENST00000534358.5:c.7662G>A	ENSP00000436786.1:p.Glu2554=
NM_001197104.1:c.7662G>A , LRG_613t1:c.7662G>A	NP_001184033.1:p.Glu2554=
NM_005933.3:c.7653G>A	NP_005924.2:p.Glu2551=
XM_006718839.2:c.5145G>A	XP_006718902.2:p.Glu1715=
XM_011542829.1:c.7761G>A	XP_011541131.1:p.Glu2587=
XM_011542830.1:c.7758G>A	XP_011541132.1:p.Glu2586=
XM_011542831.1:c.7752G>A	XP_011541133.1:p.Glu2584=
XM_011542832.1:c.5568G>A	XP_011541134.1:p.Glu1856=
XM_011542833.1:c.5244G>A	XP_011541135.1:p.Glu1748=
XM_006718839.3:c.5145G>A	XP_006718902.2:p.Glu1715=
XM_011542829.2:c.7761G>A	XP_011541131.1:p.Glu2587=
XM_011542830.2:c.7758G>A	XP_011541132.1:p.Glu2586=
XM_011542831.2:c.7752G>A	XP_011541133.1:p.Glu2584=
XM_011542833.2:c.5244G>A	XP_011541135.1:p.Glu1748=
NM_001197104.2:c.7662G>A MANE Select	NP_001184033.1:p.Glu2554=
NM_005933.4:c.7653G>A	NP_005924.2:p.Glu2551=