Canonical Allele Identifier: CA2580613110

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2506464
• ClinVar RCV Id: RCV003236632

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730048delinsTC , CM000681.2:g.35730048delinsTC	GRCh38
NC_000019.9:g.36220949delinsTC , CM000681.1:g.36220949delinsTC	GRCh37
NC_000019.8:g.40912789delinsTC	NCBI36
NG_052906.1:g.17030delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4933delinsTC	ENSP00000501283.1:p.Ala1645SerfsTer11
ENST00000674114.2:c.2540delinsTC	ENSP00000501039.2:n.2540delinsTC
ENST00000684977.1:c.217delinsTC	ENSP00000509384.1:p.Ala73SerfsTer11
ENST00000685168.1:c.425delinsTC
ENST00000689544.1:n.152delinsTC
ENST00000691421.1:c.220delinsTC	ENSP00000508674.1:p.Ala74SerfsTer11
ENST00000691855.1:c.4541delinsTC
ENST00000692961.1:c.4999delinsTC	ENSP00000509289.1:p.Ala1667SerfsTer11
ENST00000420124.4:c.4999delinsTC MANE Select	ENSP00000398837.2:p.Ala1667SerfsTer11
ENST00000673918.1:c.4933delinsTC	ENSP00000501283.1:p.Ala1645SerfsTer11
ENST00000674114.1:c.2321delinsTC
ENST00000420124.2:c.4999delinsTC	ENSP00000398837.1:p.Ala1667SerfsTer11
NM_014727.2:c.4999delinsTC	NP_055542.1:p.Ala1667SerfsTer11
XM_011527561.1:c.4933delinsTC	XP_011525863.1:p.Ala1645SerfsTer11
XM_011527562.1:c.4999delinsTC	XP_011525864.1:p.Ala1667SerfsTer11
XM_011527563.1:c.4723delinsTC	XP_011525865.1:p.Ala1575SerfsTer11
XM_011527561.2:c.4435delinsTC	XP_011525863.2:p.Ala1479SerfsTer11
XM_011527562.2:c.4999delinsTC	XP_011525864.1:p.Ala1667SerfsTer11
XM_017027544.1:c.4999delinsTC	XP_016883033.1:p.Ala1667SerfsTer11
XM_017027545.1:c.4435delinsTC	XP_016883034.1:p.Ala1479SerfsTer11
XM_017027546.1:c.1963delinsTC	XP_016883035.1:p.Ala655SerfsTer11
NM_014727.3:c.4999delinsTC MANE Select	NP_055542.1:p.Ala1667SerfsTer11