Canonical Allele Identifier: CA9385678

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 745202
• ClinVar RCV Id: RCV000921712
• dbSNP Id: rs755230505
• ExAC: 19:36223855 A / G
• gnomAD v2: 19-36223855-A-G
• gnomAD v4: 19-35732954-A-G
• MyVariant Identifiers: chr19:g.36223855A>G (hg19) ; chr19:g.35732954A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732954A>G , CM000681.2:g.35732954A>G	GRCh38
NC_000019.9:g.36223855A>G , CM000681.1:g.36223855A>G	GRCh37
NC_000019.8:g.40915695A>G	NCBI36
NG_052906.1:g.19936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.711A>G
ENST00000673918.2:c.6339A>G	ENSP00000501283.1:p.Ser2113=
ENST00000674114.2:c.3946A>G	ENSP00000501039.2:n.3946A>G
ENST00000684977.1:c.1623A>G	ENSP00000509384.1:p.Ser541=
ENST00000689544.1:n.1558A>G
ENST00000691421.1:c.1626A>G	ENSP00000508674.1:p.Ser542=
ENST00000691855.1:c.5947A>G
ENST00000692961.1:c.6405A>G	ENSP00000509289.1:p.Ser2135=
ENST00000693677.1:c.704+625A>G	ENSP00000509779.1:n.704+625A>G
ENST00000420124.4:c.6405A>G MANE Select	ENSP00000398837.2:p.Ser2135=
ENST00000673918.1:c.6339A>G	ENSP00000501283.1:p.Ser2113=
ENST00000674114.1:c.3727A>G
ENST00000420124.2:c.6405A>G	ENSP00000398837.1:p.Ser2135=
NM_014727.2:c.6405A>G	NP_055542.1:p.Ser2135=
XM_011527561.1:c.6339A>G	XP_011525863.1:p.Ser2113=
XM_011527562.1:c.6405A>G	XP_011525864.1:p.Ser2135=
XM_011527563.1:c.6129A>G	XP_011525865.1:p.Ser2043=
XM_011527561.2:c.5841A>G	XP_011525863.2:p.Ser1947=
XM_011527562.2:c.6405A>G	XP_011525864.1:p.Ser2135=
XM_017027544.1:c.6405A>G	XP_016883033.1:p.Ser2135=
XM_017027545.1:c.5841A>G	XP_016883034.1:p.Ser1947=
XM_017027546.1:c.3369A>G	XP_016883035.1:p.Ser1123=
NM_014727.3:c.6405A>G MANE Select	NP_055542.1:p.Ser2135=