Canonical Allele Identifier: CA658799186

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 520719
• ClinVar RCV Id: RCV000622860 ; RCV001683613
• dbSNP Id: rs1555732987
• MyVariant Identifiers: chr19:g.36223695_36223716dup (hg19) ; chr19:g.35732794_35732815dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732794_35732815dup , CM000681.2:g.35732794_35732815dup	GRCh38
NC_000019.9:g.36223695_36223716dup , CM000681.1:g.36223695_36223716dup	GRCh37
NC_000019.8:g.40915535_40915556dup	NCBI36
NG_052906.1:g.19776_19797dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.551_572dup
ENST00000673918.2:c.6179_6200dup	ENSP00000501283.1:p.Val2068HisfsTer25
ENST00000674114.2:c.3786_3807dup	ENSP00000501039.2:n.3786_3807dup
ENST00000684977.1:c.1463_1484dup	ENSP00000509384.1:p.Val496HisfsTer25
ENST00000689544.1:n.1398_1419dup
ENST00000691421.1:c.1466_1487dup	ENSP00000508674.1:p.Val497HisfsTer25
ENST00000691855.1:c.5787_5808dup
ENST00000692961.1:c.6245_6266dup	ENSP00000509289.1:p.Val2090HisfsTer25
ENST00000693677.1:c.704+465_704+486dup	ENSP00000509779.1:n.704+465_704+486dup
ENST00000420124.4:c.6245_6266dup MANE Select	ENSP00000398837.2:p.Val2090HisfsTer25
ENST00000673918.1:c.6179_6200dup	ENSP00000501283.1:p.Val2068HisfsTer25
ENST00000674114.1:c.3567_3588dup
ENST00000420124.2:c.6245_6266dup	ENSP00000398837.1:p.Val2090HisfsTer25
NM_014727.2:c.6245_6266dup	NP_055542.1:p.Val2090HisfsTer25
XM_011527561.1:c.6179_6200dup	XP_011525863.1:p.Val2068HisfsTer25
XM_011527562.1:c.6245_6266dup	XP_011525864.1:p.Val2090HisfsTer25
XM_011527563.1:c.5969_5990dup	XP_011525865.1:p.Val1998HisfsTer25
XM_011527561.2:c.5681_5702dup	XP_011525863.2:p.Val1902HisfsTer25
XM_011527562.2:c.6245_6266dup	XP_011525864.1:p.Val2090HisfsTer25
XM_017027544.1:c.6245_6266dup	XP_016883033.1:p.Val2090HisfsTer25
XM_017027545.1:c.5681_5702dup	XP_016883034.1:p.Val1902HisfsTer25
XM_017027546.1:c.3209_3230dup	XP_016883035.1:p.Val1078HisfsTer25
NM_014727.3:c.6245_6266dup MANE Select	NP_055542.1:p.Val2090HisfsTer25