Canonical Allele Identifier: CA405425575

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732627-G-C
• MyVariant Identifiers: chr19:g.36223528G>C (hg19) ; chr19:g.35732627G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732627G>C , CM000681.2:g.35732627G>C	GRCh38
NC_000019.9:g.36223528G>C , CM000681.1:g.36223528G>C	GRCh37
NC_000019.8:g.40915368G>C	NCBI36
NG_052906.1:g.19609G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.384G>C
ENST00000673918.2:c.6012G>C	ENSP00000501283.1:p.Glu2004Asp
ENST00000674114.2:c.3619G>C	ENSP00000501039.2:n.3619G>C
ENST00000684977.1:c.1296G>C	ENSP00000509384.1:p.Glu432Asp
ENST00000689544.1:n.1231G>C
ENST00000691421.1:c.1299G>C	ENSP00000508674.1:p.Glu433Asp
ENST00000691855.1:c.5620G>C
ENST00000692961.1:c.6078G>C	ENSP00000509289.1:p.Glu2026Asp
ENST00000693677.1:c.704+298G>C	ENSP00000509779.1:n.704+298G>C
ENST00000420124.4:c.6078G>C MANE Select	ENSP00000398837.2:p.Glu2026Asp
ENST00000673918.1:c.6012G>C	ENSP00000501283.1:p.Glu2004Asp
ENST00000674114.1:c.3400G>C
ENST00000420124.2:c.6078G>C	ENSP00000398837.1:p.Glu2026Asp
NM_014727.2:c.6078G>C	NP_055542.1:p.Glu2026Asp
XM_011527561.1:c.6012G>C	XP_011525863.1:p.Glu2004Asp
XM_011527562.1:c.6078G>C	XP_011525864.1:p.Glu2026Asp
XM_011527563.1:c.5802G>C	XP_011525865.1:p.Glu1934Asp
XM_011527561.2:c.5514G>C	XP_011525863.2:p.Glu1838Asp
XM_011527562.2:c.6078G>C	XP_011525864.1:p.Glu2026Asp
XM_017027544.1:c.6078G>C	XP_016883033.1:p.Glu2026Asp
XM_017027545.1:c.5514G>C	XP_016883034.1:p.Glu1838Asp
XM_017027546.1:c.3042G>C	XP_016883035.1:p.Glu1014Asp
NM_014727.3:c.6078G>C MANE Select	NP_055542.1:p.Glu2026Asp