Canonical Allele Identifier: CA645604597

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733209-GC-G
• COSMIC: COSM3198555

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733215del , CM000681.2:g.35733215del	GRCh38
NC_000019.9:g.36224116del , CM000681.1:g.36224116del	GRCh37
NC_000019.8:g.40915956del	NCBI36
NG_052906.1:g.20197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.972del
ENST00000673918.2:c.6600del	ENSP00000501283.1:p.Thr2201ProfsTer?
ENST00000674114.2:c.4207del	ENSP00000501039.2:n.4207del
ENST00000684977.1:c.1884del	ENSP00000509384.1:p.Thr629ProfsTer?
ENST00000689544.1:n.1819del
ENST00000691421.1:c.1887del	ENSP00000508674.1:p.Thr630ProfsTer?
ENST00000691855.1:c.6208del
ENST00000692961.1:c.6666del	ENSP00000509289.1:p.Thr2223ProfsTer?
ENST00000693677.1:c.705-382del	ENSP00000509779.1:n.705-382del
ENST00000420124.4:c.6666del MANE Select	ENSP00000398837.2:p.Thr2223ProfsTer?
ENST00000673918.1:c.6600del	ENSP00000501283.1:p.Thr2201ProfsTer?
ENST00000674114.1:c.3988del
ENST00000420124.2:c.6666del	ENSP00000398837.1:p.Thr2223ProfsTer?
NM_014727.2:c.6666del	NP_055542.1:p.Thr2223ProfsTer?
XM_011527561.1:c.6600del	XP_011525863.1:p.Thr2201ProfsTer?
XM_011527562.1:c.6666del	XP_011525864.1:p.Thr2223ProfsTer?
XM_011527563.1:c.6390del	XP_011525865.1:p.Thr2131ProfsTer?
XM_011527561.2:c.6102del	XP_011525863.2:p.Thr2035ProfsTer?
XM_011527562.2:c.6666del	XP_011525864.1:p.Thr2223ProfsTer?
XM_017027544.1:c.6666del	XP_016883033.1:p.Thr2223ProfsTer?
XM_017027545.1:c.6102del	XP_016883034.1:p.Thr2035ProfsTer?
XM_017027546.1:c.3630del	XP_016883035.1:p.Thr1211ProfsTer?
NM_014727.3:c.6666del MANE Select	NP_055542.1:p.Thr2223ProfsTer?