Canonical Allele Identifier: CA9385566

Gene: KMT2B

Linked Data

• dbSNP Id: rs750148239
• ExAC: 19:36223363 A / G
• gnomAD v2: 19-36223363-A-G
• MyVariant Identifiers: chr19:g.36223363A>G (hg19) ; chr19:g.35732462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732462A>G , CM000681.2:g.35732462A>G	GRCh38
NC_000019.9:g.36223363A>G , CM000681.1:g.36223363A>G	GRCh37
NC_000019.8:g.40915203A>G	NCBI36
NG_052906.1:g.19444A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.219A>G
ENST00000673918.2:c.5847A>G	ENSP00000501283.1:p.Glu1949=
ENST00000674114.2:c.3454A>G	ENSP00000501039.2:n.3454A>G
ENST00000684977.1:c.1131A>G	ENSP00000509384.1:p.Glu377=
ENST00000689544.1:n.1066A>G
ENST00000691421.1:c.1134A>G	ENSP00000508674.1:p.Glu378=
ENST00000691855.1:c.5455A>G
ENST00000692961.1:c.5913A>G	ENSP00000509289.1:p.Glu1971=
ENST00000693677.1:c.704+133A>G	ENSP00000509779.1:n.704+133A>G
ENST00000420124.4:c.5913A>G MANE Select	ENSP00000398837.2:p.Glu1971=
ENST00000673918.1:c.5847A>G	ENSP00000501283.1:p.Glu1949=
ENST00000674114.1:c.3235A>G
ENST00000420124.2:c.5913A>G	ENSP00000398837.1:p.Glu1971=
NM_014727.2:c.5913A>G	NP_055542.1:p.Glu1971=
XM_011527561.1:c.5847A>G	XP_011525863.1:p.Glu1949=
XM_011527562.1:c.5913A>G	XP_011525864.1:p.Glu1971=
XM_011527563.1:c.5637A>G	XP_011525865.1:p.Glu1879=
XM_011527561.2:c.5349A>G	XP_011525863.2:p.Glu1783=
XM_011527562.2:c.5913A>G	XP_011525864.1:p.Glu1971=
XM_017027544.1:c.5913A>G	XP_016883033.1:p.Glu1971=
XM_017027545.1:c.5349A>G	XP_016883034.1:p.Glu1783=
XM_017027546.1:c.2877A>G	XP_016883035.1:p.Glu959=
NM_014727.3:c.5913A>G MANE Select	NP_055542.1:p.Glu1971=