Canonical Allele Identifier: CA405418632

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35729967-C-T
• MyVariant Identifiers: chr19:g.36220868C>T (hg19) ; chr19:g.35729967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729967C>T , CM000681.2:g.35729967C>T	GRCh38
NC_000019.9:g.36220868C>T , CM000681.1:g.36220868C>T	GRCh37
NC_000019.8:g.40912708C>T	NCBI36
NG_052906.1:g.16949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4852C>T	ENSP00000501283.1:p.Arg1618Cys
ENST00000674114.2:c.2459C>T	ENSP00000501039.2:n.2459C>T
ENST00000684977.1:c.136C>T	ENSP00000509384.1:p.Arg46Cys
ENST00000685168.1:c.344C>T
ENST00000689544.1:n.71C>T
ENST00000691421.1:c.139C>T	ENSP00000508674.1:p.Arg47Cys
ENST00000691855.1:c.4460C>T
ENST00000692961.1:c.4918C>T	ENSP00000509289.1:p.Arg1640Cys
ENST00000420124.4:c.4918C>T MANE Select	ENSP00000398837.2:p.Arg1640Cys
ENST00000673918.1:c.4852C>T	ENSP00000501283.1:p.Arg1618Cys
ENST00000674114.1:c.2240C>T
ENST00000420124.2:c.4918C>T	ENSP00000398837.1:p.Arg1640Cys
NM_014727.2:c.4918C>T	NP_055542.1:p.Arg1640Cys
XM_011527561.1:c.4852C>T	XP_011525863.1:p.Arg1618Cys
XM_011527562.1:c.4918C>T	XP_011525864.1:p.Arg1640Cys
XM_011527563.1:c.4642C>T	XP_011525865.1:p.Arg1548Cys
XM_011527561.2:c.4354C>T	XP_011525863.2:p.Arg1452Cys
XM_011527562.2:c.4918C>T	XP_011525864.1:p.Arg1640Cys
XM_017027544.1:c.4918C>T	XP_016883033.1:p.Arg1640Cys
XM_017027545.1:c.4354C>T	XP_016883034.1:p.Arg1452Cys
XM_017027546.1:c.1882C>T	XP_016883035.1:p.Arg628Cys
NM_014727.3:c.4918C>T MANE Select	NP_055542.1:p.Arg1640Cys