Canonical Allele Identifier: CA2580096826

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2441009
• ClinVar RCV Id: RCV003146838

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732850del , CM000681.2:g.35732850del	GRCh38
NC_000019.9:g.36223751del , CM000681.1:g.36223751del	GRCh37
NC_000019.8:g.40915591del	NCBI36
NG_052906.1:g.19832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.607del
ENST00000673918.2:c.6235del	ENSP00000501283.1:p.Asp2079ThrfsTer18
ENST00000674114.2:c.3842del	ENSP00000501039.2:n.3842del
ENST00000684977.1:c.1519del	ENSP00000509384.1:p.Asp507ThrfsTer18
ENST00000689544.1:n.1454del
ENST00000691421.1:c.1522del	ENSP00000508674.1:p.Asp508ThrfsTer18
ENST00000691855.1:c.5843del
ENST00000692961.1:c.6301del	ENSP00000509289.1:p.Asp2101ThrfsTer18
ENST00000693677.1:c.704+521del	ENSP00000509779.1:n.704+521del
ENST00000420124.4:c.6301del MANE Select	ENSP00000398837.2:p.Asp2101ThrfsTer18
ENST00000673918.1:c.6235del	ENSP00000501283.1:p.Asp2079ThrfsTer18
ENST00000674114.1:c.3623del
ENST00000420124.2:c.6301del	ENSP00000398837.1:p.Asp2101ThrfsTer18
NM_014727.2:c.6301del	NP_055542.1:p.Asp2101ThrfsTer18
XM_011527561.1:c.6235del	XP_011525863.1:p.Asp2079ThrfsTer18
XM_011527562.1:c.6301del	XP_011525864.1:p.Asp2101ThrfsTer18
XM_011527563.1:c.6025del	XP_011525865.1:p.Asp2009ThrfsTer18
XM_011527561.2:c.5737del	XP_011525863.2:p.Asp1913ThrfsTer18
XM_011527562.2:c.6301del	XP_011525864.1:p.Asp2101ThrfsTer18
XM_017027544.1:c.6301del	XP_016883033.1:p.Asp2101ThrfsTer18
XM_017027545.1:c.5737del	XP_016883034.1:p.Asp1913ThrfsTer18
XM_017027546.1:c.3265del	XP_016883035.1:p.Asp1089ThrfsTer18
NM_014727.3:c.6301del MANE Select	NP_055542.1:p.Asp2101ThrfsTer18