Canonical Allele Identifier: CA2814254939

Gene: KMT2B

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.551del
ENST00000673918.2:c.6179del	ENSP00000501283.1:p.Gly2060AlafsTer9
ENST00000674114.2:c.3786del	ENSP00000501039.2:n.3786del
ENST00000684977.1:c.1463del	ENSP00000509384.1:p.Gly488AlafsTer9
ENST00000689544.1:n.1398del
ENST00000691421.1:c.1466del	ENSP00000508674.1:p.Gly489AlafsTer9
ENST00000691855.1:c.5787del
ENST00000692961.1:c.6245del	ENSP00000509289.1:p.Gly2082AlafsTer9
ENST00000693677.1:c.704+465del	ENSP00000509779.1:n.704+465del
ENST00000420124.4:c.6245del MANE Select	ENSP00000398837.2:p.Gly2082AlafsTer9
ENST00000673918.1:c.6179del	ENSP00000501283.1:p.Gly2060AlafsTer9
ENST00000674114.1:c.3567del
ENST00000420124.2:c.6245del	ENSP00000398837.1:p.Gly2082AlafsTer9
NM_014727.2:c.6245del	NP_055542.1:p.Gly2082AlafsTer9
XM_011527561.1:c.6179del	XP_011525863.1:p.Gly2060AlafsTer9
XM_011527562.1:c.6245del	XP_011525864.1:p.Gly2082AlafsTer9
XM_011527563.1:c.5969del	XP_011525865.1:p.Gly1990AlafsTer9
XM_011527561.2:c.5681del	XP_011525863.2:p.Gly1894AlafsTer9
XM_011527562.2:c.6245del	XP_011525864.1:p.Gly2082AlafsTer9
XM_017027544.1:c.6245del	XP_016883033.1:p.Gly2082AlafsTer9
XM_017027545.1:c.5681del	XP_016883034.1:p.Gly1894AlafsTer9
XM_017027546.1:c.3209del	XP_016883035.1:p.Gly1070AlafsTer9
NM_014727.3:c.6245del MANE Select	NP_055542.1:p.Gly2082AlafsTer9