Canonical Allele Identifier: CA405425283

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732574-G-C
• MyVariant Identifiers: chr19:g.36223475G>C (hg19) ; chr19:g.35732574G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732574G>C , CM000681.2:g.35732574G>C	GRCh38
NC_000019.9:g.36223475G>C , CM000681.1:g.36223475G>C	GRCh37
NC_000019.8:g.40915315G>C	NCBI36
NG_052906.1:g.19556G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.331G>C
ENST00000673918.2:c.5959G>C	ENSP00000501283.1:p.Ala1987Pro
ENST00000674114.2:c.3566G>C	ENSP00000501039.2:n.3566G>C
ENST00000684977.1:c.1243G>C	ENSP00000509384.1:p.Ala415Pro
ENST00000689544.1:n.1178G>C
ENST00000691421.1:c.1246G>C	ENSP00000508674.1:p.Ala416Pro
ENST00000691855.1:c.5567G>C
ENST00000692961.1:c.6025G>C	ENSP00000509289.1:p.Ala2009Pro
ENST00000693677.1:c.704+245G>C	ENSP00000509779.1:n.704+245G>C
ENST00000420124.4:c.6025G>C MANE Select	ENSP00000398837.2:p.Ala2009Pro
ENST00000673918.1:c.5959G>C	ENSP00000501283.1:p.Ala1987Pro
ENST00000674114.1:c.3347G>C
ENST00000420124.2:c.6025G>C	ENSP00000398837.1:p.Ala2009Pro
NM_014727.2:c.6025G>C	NP_055542.1:p.Ala2009Pro
XM_011527561.1:c.5959G>C	XP_011525863.1:p.Ala1987Pro
XM_011527562.1:c.6025G>C	XP_011525864.1:p.Ala2009Pro
XM_011527563.1:c.5749G>C	XP_011525865.1:p.Ala1917Pro
XM_011527561.2:c.5461G>C	XP_011525863.2:p.Ala1821Pro
XM_011527562.2:c.6025G>C	XP_011525864.1:p.Ala2009Pro
XM_017027544.1:c.6025G>C	XP_016883033.1:p.Ala2009Pro
XM_017027545.1:c.5461G>C	XP_016883034.1:p.Ala1821Pro
XM_017027546.1:c.2989G>C	XP_016883035.1:p.Ala997Pro
NM_014727.3:c.6025G>C MANE Select	NP_055542.1:p.Ala2009Pro