Canonical Allele Identifier: CA9385583

Gene: KMT2B

Linked Data

• dbSNP Id: rs773702804
• ExAC: 19:36223472 G / T
• gnomAD v2: 19-36223472-G-T
• gnomAD v4: 19-35732571-G-T
• MyVariant Identifiers: chr19:g.36223472G>T (hg19) ; chr19:g.35732571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732571G>T , CM000681.2:g.35732571G>T	GRCh38
NC_000019.9:g.36223472G>T , CM000681.1:g.36223472G>T	GRCh37
NC_000019.8:g.40915312G>T	NCBI36
NG_052906.1:g.19553G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.328G>T
ENST00000673918.2:c.5956G>T	ENSP00000501283.1:p.Val1986Leu
ENST00000674114.2:c.3563G>T	ENSP00000501039.2:n.3563G>T
ENST00000684977.1:c.1240G>T	ENSP00000509384.1:p.Val414Leu
ENST00000689544.1:n.1175G>T
ENST00000691421.1:c.1243G>T	ENSP00000508674.1:p.Val415Leu
ENST00000691855.1:c.5564G>T
ENST00000692961.1:c.6022G>T	ENSP00000509289.1:p.Val2008Leu
ENST00000693677.1:c.704+242G>T	ENSP00000509779.1:n.704+242G>T
ENST00000420124.4:c.6022G>T MANE Select	ENSP00000398837.2:p.Val2008Leu
ENST00000673918.1:c.5956G>T	ENSP00000501283.1:p.Val1986Leu
ENST00000674114.1:c.3344G>T
ENST00000420124.2:c.6022G>T	ENSP00000398837.1:p.Val2008Leu
NM_014727.2:c.6022G>T	NP_055542.1:p.Val2008Leu
XM_011527561.1:c.5956G>T	XP_011525863.1:p.Val1986Leu
XM_011527562.1:c.6022G>T	XP_011525864.1:p.Val2008Leu
XM_011527563.1:c.5746G>T	XP_011525865.1:p.Val1916Leu
XM_011527561.2:c.5458G>T	XP_011525863.2:p.Val1820Leu
XM_011527562.2:c.6022G>T	XP_011525864.1:p.Val2008Leu
XM_017027544.1:c.6022G>T	XP_016883033.1:p.Val2008Leu
XM_017027545.1:c.5458G>T	XP_016883034.1:p.Val1820Leu
XM_017027546.1:c.2986G>T	XP_016883035.1:p.Val996Leu
NM_014727.3:c.6022G>T MANE Select	NP_055542.1:p.Val2008Leu