Canonical Allele Identifier: CA405429350

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733126-C-G
• MyVariant Identifiers: chr19:g.36224027C>G (hg19) ; chr19:g.35733126C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733126C>G , CM000681.2:g.35733126C>G	GRCh38
NC_000019.9:g.36224027C>G , CM000681.1:g.36224027C>G	GRCh37
NC_000019.8:g.40915867C>G	NCBI36
NG_052906.1:g.20108C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.883C>G
ENST00000673918.2:c.6511C>G	ENSP00000501283.1:p.Leu2171Val
ENST00000674114.2:c.4118C>G	ENSP00000501039.2:n.4118C>G
ENST00000684977.1:c.1795C>G	ENSP00000509384.1:p.Leu599Val
ENST00000689544.1:n.1730C>G
ENST00000691421.1:c.1798C>G	ENSP00000508674.1:p.Leu600Val
ENST00000691855.1:c.6119C>G
ENST00000692961.1:c.6577C>G	ENSP00000509289.1:p.Leu2193Val
ENST00000693677.1:c.705-471C>G	ENSP00000509779.1:n.705-471C>G
ENST00000420124.4:c.6577C>G MANE Select	ENSP00000398837.2:p.Leu2193Val
ENST00000673918.1:c.6511C>G	ENSP00000501283.1:p.Leu2171Val
ENST00000674114.1:c.3899C>G
ENST00000420124.2:c.6577C>G	ENSP00000398837.1:p.Leu2193Val
NM_014727.2:c.6577C>G	NP_055542.1:p.Leu2193Val
XM_011527561.1:c.6511C>G	XP_011525863.1:p.Leu2171Val
XM_011527562.1:c.6577C>G	XP_011525864.1:p.Leu2193Val
XM_011527563.1:c.6301C>G	XP_011525865.1:p.Leu2101Val
XM_011527561.2:c.6013C>G	XP_011525863.2:p.Leu2005Val
XM_011527562.2:c.6577C>G	XP_011525864.1:p.Leu2193Val
XM_017027544.1:c.6577C>G	XP_016883033.1:p.Leu2193Val
XM_017027545.1:c.6013C>G	XP_016883034.1:p.Leu2005Val
XM_017027546.1:c.3541C>G	XP_016883035.1:p.Leu1181Val
NM_014727.3:c.6577C>G MANE Select	NP_055542.1:p.Leu2193Val