Canonical Allele Identifier: CA9385648
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs753403524

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732815_35732817del , CM000681.2:g.35732815_35732817del GRCh38
NC_000019.9:g.36223716_36223718del , CM000681.1:g.36223716_36223718del GRCh37
NC_000019.8:g.40915556_40915558del NCBI36
NG_052906.1:g.19797_19799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.572_574del
ENST00000673918.2:c.6200_6202del ENSP00000501283.1:p.Gly2067del
ENST00000674114.2:c.3807_3809del ENSP00000501039.2:n.3807_3809del
ENST00000684977.1:c.1484_1486del ENSP00000509384.1:p.Gly495del
ENST00000689544.1:n.1419_1421del
ENST00000691421.1:c.1487_1489del ENSP00000508674.1:p.Gly496del
ENST00000691855.1:c.5808_5810del
ENST00000692961.1:c.6266_6268del ENSP00000509289.1:p.Gly2089del
ENST00000693677.1:c.704+486_704+488del ENSP00000509779.1:n.704+486_704+488del
ENST00000420124.4:c.6266_6268del MANE Select ENSP00000398837.2:p.Gly2089del
ENST00000673918.1:c.6200_6202del ENSP00000501283.1:p.Gly2067del
ENST00000674114.1:c.3588_3590del
ENST00000420124.2:c.6266_6268del ENSP00000398837.1:p.Gly2089del
NM_014727.2:c.6266_6268del NP_055542.1:p.Gly2089del
XM_011527561.1:c.6200_6202del XP_011525863.1:p.Gly2067del
XM_011527562.1:c.6266_6268del XP_011525864.1:p.Gly2089del
XM_011527563.1:c.5990_5992del XP_011525865.1:p.Gly1997del
XM_011527561.2:c.5702_5704del XP_011525863.2:p.Gly1901del
XM_011527562.2:c.6266_6268del XP_011525864.1:p.Gly2089del
XM_017027544.1:c.6266_6268del XP_016883033.1:p.Gly2089del
XM_017027545.1:c.5702_5704del XP_016883034.1:p.Gly1901del
XM_017027546.1:c.3230_3232del XP_016883035.1:p.Gly1077del
NM_014727.3:c.6266_6268del MANE Select NP_055542.1:p.Gly2089del