Canonical Allele Identifier: CA9385679

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1297015
• ClinVar RCV Id: RCV001724751 ; RCV001859435
• dbSNP Id: rs754806477
• ExAC: 19:36223857 T / TC
• gnomAD v2: 19-36223857-T-TC
• gnomAD v4: 19-35732956-T-TC
• MyVariant Identifiers: chr19:g.36223857_36223858insC (hg19) ; chr19:g.35732956_35732957insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732962dup , CM000681.2:g.35732962dup	GRCh38
NC_000019.9:g.36223863dup , CM000681.1:g.36223863dup	GRCh37
NC_000019.8:g.40915703dup	NCBI36
NG_052906.1:g.19944dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.719dup
ENST00000673918.2:c.6347dup	ENSP00000501283.1:p.Ala2117GlyfsTer6
ENST00000674114.2:c.3954dup	ENSP00000501039.2:n.3954dup
ENST00000684977.1:c.1631dup	ENSP00000509384.1:p.Ala545GlyfsTer6
ENST00000689544.1:n.1566dup
ENST00000691421.1:c.1634dup	ENSP00000508674.1:p.Ala546GlyfsTer6
ENST00000691855.1:c.5955dup
ENST00000692961.1:c.6413dup	ENSP00000509289.1:p.Ala2139GlyfsTer6
ENST00000693677.1:c.704+633dup	ENSP00000509779.1:n.704+633dup
ENST00000420124.4:c.6413dup MANE Select	ENSP00000398837.2:p.Ala2139GlyfsTer6
ENST00000673918.1:c.6347dup	ENSP00000501283.1:p.Ala2117GlyfsTer6
ENST00000674114.1:c.3735dup
ENST00000420124.2:c.6413dup	ENSP00000398837.1:p.Ala2139GlyfsTer6
NM_014727.2:c.6413dup	NP_055542.1:p.Ala2139GlyfsTer6
XM_011527561.1:c.6347dup	XP_011525863.1:p.Ala2117GlyfsTer6
XM_011527562.1:c.6413dup	XP_011525864.1:p.Ala2139GlyfsTer6
XM_011527563.1:c.6137dup	XP_011525865.1:p.Ala2047GlyfsTer6
XM_011527561.2:c.5849dup	XP_011525863.2:p.Ala1951GlyfsTer6
XM_011527562.2:c.6413dup	XP_011525864.1:p.Ala2139GlyfsTer6
XM_017027544.1:c.6413dup	XP_016883033.1:p.Ala2139GlyfsTer6
XM_017027545.1:c.5849dup	XP_016883034.1:p.Ala1951GlyfsTer6
XM_017027546.1:c.3377dup	XP_016883035.1:p.Ala1127GlyfsTer6
NM_014727.3:c.6413dup MANE Select	NP_055542.1:p.Ala2139GlyfsTer6