Canonical Allele Identifier: CA9385591

Gene: KMT2B

Linked Data

• dbSNP Id: rs777611420
• ExAC: 19:36223487 A / G
• gnomAD v2: 19-36223487-A-G
• gnomAD v3: 19-35732586-A-G
• gnomAD v4: 19-35732586-A-G
• MyVariant Identifiers: chr19:g.36223487A>G (hg19) ; chr19:g.35732586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732586A>G , CM000681.2:g.35732586A>G	GRCh38
NC_000019.9:g.36223487A>G , CM000681.1:g.36223487A>G	GRCh37
NC_000019.8:g.40915327A>G	NCBI36
NG_052906.1:g.19568A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.343A>G
ENST00000673918.2:c.5971A>G	ENSP00000501283.1:p.Met1991Val
ENST00000674114.2:c.3578A>G	ENSP00000501039.2:n.3578A>G
ENST00000684977.1:c.1255A>G	ENSP00000509384.1:p.Met419Val
ENST00000689544.1:n.1190A>G
ENST00000691421.1:c.1258A>G	ENSP00000508674.1:p.Met420Val
ENST00000691855.1:c.5579A>G
ENST00000692961.1:c.6037A>G	ENSP00000509289.1:p.Met2013Val
ENST00000693677.1:c.704+257A>G	ENSP00000509779.1:n.704+257A>G
ENST00000420124.4:c.6037A>G MANE Select	ENSP00000398837.2:p.Met2013Val
ENST00000673918.1:c.5971A>G	ENSP00000501283.1:p.Met1991Val
ENST00000674114.1:c.3359A>G
ENST00000420124.2:c.6037A>G	ENSP00000398837.1:p.Met2013Val
NM_014727.2:c.6037A>G	NP_055542.1:p.Met2013Val
XM_011527561.1:c.5971A>G	XP_011525863.1:p.Met1991Val
XM_011527562.1:c.6037A>G	XP_011525864.1:p.Met2013Val
XM_011527563.1:c.5761A>G	XP_011525865.1:p.Met1921Val
XM_011527561.2:c.5473A>G	XP_011525863.2:p.Met1825Val
XM_011527562.2:c.6037A>G	XP_011525864.1:p.Met2013Val
XM_017027544.1:c.6037A>G	XP_016883033.1:p.Met2013Val
XM_017027545.1:c.5473A>G	XP_016883034.1:p.Met1825Val
XM_017027546.1:c.3001A>G	XP_016883035.1:p.Met1001Val
NM_014727.3:c.6037A>G MANE Select	NP_055542.1:p.Met2013Val