Canonical Allele Identifier: CA2697556450

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2710555
• ClinVar RCV Id: RCV003552486

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732794_35732815del , CM000681.2:g.35732794_35732815del	GRCh38
NC_000019.9:g.36223695_36223716del , CM000681.1:g.36223695_36223716del	GRCh37
NC_000019.8:g.40915535_40915556del	NCBI36
NG_052906.1:g.19776_19797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.551_572del
ENST00000673918.2:c.6179_6200del	ENSP00000501283.1:p.Gly2060GlufsTer2
ENST00000674114.2:c.3786_3807del	ENSP00000501039.2:n.3786_3807del
ENST00000684977.1:c.1463_1484del	ENSP00000509384.1:p.Gly488GlufsTer2
ENST00000689544.1:n.1398_1419del
ENST00000691421.1:c.1466_1487del	ENSP00000508674.1:p.Gly489GlufsTer2
ENST00000691855.1:c.5787_5808del
ENST00000692961.1:c.6245_6266del	ENSP00000509289.1:p.Gly2082GlufsTer2
ENST00000693677.1:c.704+465_704+486del	ENSP00000509779.1:n.704+465_704+486del
ENST00000420124.4:c.6245_6266del MANE Select	ENSP00000398837.2:p.Gly2082GlufsTer2
ENST00000673918.1:c.6179_6200del	ENSP00000501283.1:p.Gly2060GlufsTer2
ENST00000674114.1:c.3567_3588del
ENST00000420124.2:c.6245_6266del	ENSP00000398837.1:p.Gly2082GlufsTer2
NM_014727.2:c.6245_6266del	NP_055542.1:p.Gly2082GlufsTer2
XM_011527561.1:c.6179_6200del	XP_011525863.1:p.Gly2060GlufsTer2
XM_011527562.1:c.6245_6266del	XP_011525864.1:p.Gly2082GlufsTer2
XM_011527563.1:c.5969_5990del	XP_011525865.1:p.Gly1990GlufsTer2
XM_011527561.2:c.5681_5702del	XP_011525863.2:p.Gly1894GlufsTer2
XM_011527562.2:c.6245_6266del	XP_011525864.1:p.Gly2082GlufsTer2
XM_017027544.1:c.6245_6266del	XP_016883033.1:p.Gly2082GlufsTer2
XM_017027545.1:c.5681_5702del	XP_016883034.1:p.Gly1894GlufsTer2
XM_017027546.1:c.3209_3230del	XP_016883035.1:p.Gly1070GlufsTer2
NM_014727.3:c.6245_6266del MANE Select	NP_055542.1:p.Gly2082GlufsTer2