Canonical Allele Identifier: CA2576757272

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733768del , CM000681.2:g.35733768del	GRCh38
NC_000019.9:g.36224669del , CM000681.1:g.36224669del	GRCh37
NC_000019.8:g.40916509del	NCBI36
NG_052906.1:g.20750del

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1525del
ENST00000673918.2:c.6989del	ENSP00000501283.1:p.Leu2330ProfsTer?
ENST00000674114.2:c.4596del	ENSP00000501039.2:n.4596del
ENST00000684977.1:c.2250del	ENSP00000509384.1:n.2250del
ENST00000689544.1:n.2296del
ENST00000689929.1:c.6del
ENST00000691421.1:c.2186del	ENSP00000508674.1:p.Leu729ProfsTer?
ENST00000691855.1:c.6597del
ENST00000692961.1:c.6979del	ENSP00000509289.1:p.Ser2327ProfsTer27
ENST00000693175.1:c.6del
ENST00000693677.1:c.800del	ENSP00000509779.1:p.Leu267ProfsTer?
ENST00000420124.4:c.7055del MANE Select	ENSP00000398837.2:p.Leu2352ProfsTer?
ENST00000673918.1:c.6989del	ENSP00000501283.1:p.Leu2330ProfsTer?
ENST00000674114.1:c.4377del
ENST00000420124.2:c.7055del	ENSP00000398837.1:p.Leu2352ProfsTer?
ENST00000592092.1:n.435del
NM_014727.2:c.7055del	NP_055542.1:p.Leu2352ProfsTer?
XM_011527561.1:c.6989del	XP_011525863.1:p.Leu2330ProfsTer?
XM_011527562.1:c.7055del	XP_011525864.1:p.Leu2352ProfsTer?
XM_011527563.1:c.6779del	XP_011525865.1:p.Leu2260ProfsTer?
XM_011527561.2:c.6491del	XP_011525863.2:p.Leu2164ProfsTer?
XM_011527562.2:c.7055del	XP_011525864.1:p.Leu2352ProfsTer?
XM_017027544.1:c.6965del	XP_016883033.1:p.Leu2322ProfsTer?
XM_017027545.1:c.6491del	XP_016883034.1:p.Leu2164ProfsTer?
XM_017027546.1:c.4019del	XP_016883035.1:p.Leu1340ProfsTer?
NM_014727.3:c.7055del MANE Select	NP_055542.1:p.Leu2352ProfsTer?