Canonical Allele Identifier: CA9385648

Gene: KMT2B

Linked Data

• dbSNP Id: rs753403524
• ExAC: 19:36223713 CAGG / C
• gnomAD v2: 19-36223713-CAGG-C
• gnomAD v4: 19-35732812-CAGG-C
• MyVariant Identifiers: chr19:g.36223714_36223716del (hg19) ; chr19:g.35732813_35732815del (hg38)

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