Canonical Allele Identifier: CA2580096825

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2433176
• ClinVar RCV Id: RCV003133901

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732845_35732846delinsTG , CM000681.2:g.35732845_35732846delinsTG	GRCh38
NC_000019.9:g.36223746_36223747delinsTG , CM000681.1:g.36223746_36223747delinsTG	GRCh37
NC_000019.8:g.40915586_40915587delinsTG	NCBI36
NG_052906.1:g.19827_19828delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.602_603delinsTG
ENST00000673918.2:c.6230_6231delinsTG	ENSP00000501283.1:p.Ala2077Val
ENST00000674114.2:c.3837_3838delinsTG	ENSP00000501039.2:n.3837_3838delinsTG
ENST00000684977.1:c.1514_1515delinsTG	ENSP00000509384.1:p.Ala505Val
ENST00000689544.1:n.1449_1450delinsTG
ENST00000691421.1:c.1517_1518delinsTG	ENSP00000508674.1:p.Ala506Val
ENST00000691855.1:c.5838_5839delinsTG
ENST00000692961.1:c.6296_6297delinsTG	ENSP00000509289.1:p.Ala2099Val
ENST00000693677.1:c.704+516_704+517delinsTG	ENSP00000509779.1:n.704+516_704+517delinsTG
ENST00000420124.4:c.6296_6297delinsTG MANE Select	ENSP00000398837.2:p.Ala2099Val
ENST00000673918.1:c.6230_6231delinsTG	ENSP00000501283.1:p.Ala2077Val
ENST00000674114.1:c.3618_3619delinsTG
ENST00000420124.2:c.6296_6297delinsTG	ENSP00000398837.1:p.Ala2099Val
NM_014727.2:c.6296_6297delinsTG	NP_055542.1:p.Ala2099Val
XM_011527561.1:c.6230_6231delinsTG	XP_011525863.1:p.Ala2077Val
XM_011527562.1:c.6296_6297delinsTG	XP_011525864.1:p.Ala2099Val
XM_011527563.1:c.6020_6021delinsTG	XP_011525865.1:p.Ala2007Val
XM_011527561.2:c.5732_5733delinsTG	XP_011525863.2:p.Ala1911Val
XM_011527562.2:c.6296_6297delinsTG	XP_011525864.1:p.Ala2099Val
XM_017027544.1:c.6296_6297delinsTG	XP_016883033.1:p.Ala2099Val
XM_017027545.1:c.5732_5733delinsTG	XP_016883034.1:p.Ala1911Val
XM_017027546.1:c.3260_3261delinsTG	XP_016883035.1:p.Ala1087Val
NM_014727.3:c.6296_6297delinsTG MANE Select	NP_055542.1:p.Ala2099Val