Canonical Allele Identifier: CA507308946

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2765720
• ClinVar RCV Id: RCV003578458
• dbSNP Id: rs1969771280
• MyVariant Identifiers: chr19:g.36223885C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732984C>T , CM000681.2:g.35732984C>T	GRCh38
NC_000019.9:g.36223885C>T , CM000681.1:g.36223885C>T	GRCh37
NC_000019.8:g.40915725C>T	NCBI36
NG_052906.1:g.19966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.741C>T
ENST00000673918.2:c.6369C>T	ENSP00000501283.1:p.Gly2123=
ENST00000674114.2:c.3976C>T	ENSP00000501039.2:n.3976C>T
ENST00000684977.1:c.1653C>T	ENSP00000509384.1:p.Gly551=
ENST00000689544.1:n.1588C>T
ENST00000691421.1:c.1656C>T	ENSP00000508674.1:p.Gly552=
ENST00000691855.1:c.5977C>T
ENST00000692961.1:c.6435C>T	ENSP00000509289.1:p.Gly2145=
ENST00000693677.1:c.705-613C>T	ENSP00000509779.1:n.705-613C>T
ENST00000420124.4:c.6435C>T MANE Select	ENSP00000398837.2:p.Gly2145=
ENST00000673918.1:c.6369C>T	ENSP00000501283.1:p.Gly2123=
ENST00000674114.1:c.3757C>T
ENST00000420124.2:c.6435C>T	ENSP00000398837.1:p.Gly2145=
NM_014727.2:c.6435C>T	NP_055542.1:p.Gly2145=
XM_011527561.1:c.6369C>T	XP_011525863.1:p.Gly2123=
XM_011527562.1:c.6435C>T	XP_011525864.1:p.Gly2145=
XM_011527563.1:c.6159C>T	XP_011525865.1:p.Gly2053=
XM_011527561.2:c.5871C>T	XP_011525863.2:p.Gly1957=
XM_011527562.2:c.6435C>T	XP_011525864.1:p.Gly2145=
XM_017027544.1:c.6435C>T	XP_016883033.1:p.Gly2145=
XM_017027545.1:c.5871C>T	XP_016883034.1:p.Gly1957=
XM_017027546.1:c.3399C>T	XP_016883035.1:p.Gly1133=
NM_014727.3:c.6435C>T MANE Select	NP_055542.1:p.Gly2145=