Canonical Allele Identifier: CA405419040

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2584428
• ClinVar RCV Id: RCV003335868
• gnomAD v4: 19-35730051-C-T
• COSMIC: COSM5056548
• MyVariant Identifiers: chr19:g.36220952C>T (hg19) ; chr19:g.35730051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730051C>T , CM000681.2:g.35730051C>T	GRCh38
NC_000019.9:g.36220952C>T , CM000681.1:g.36220952C>T	GRCh37
NC_000019.8:g.40912792C>T	NCBI36
NG_052906.1:g.17033C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4936C>T	ENSP00000501283.1:p.Arg1646Trp
ENST00000674114.2:c.2543C>T	ENSP00000501039.2:n.2543C>T
ENST00000684977.1:c.220C>T	ENSP00000509384.1:p.Arg74Trp
ENST00000685168.1:c.428C>T
ENST00000689544.1:n.155C>T
ENST00000691421.1:c.223C>T	ENSP00000508674.1:p.Arg75Trp
ENST00000691855.1:c.4544C>T
ENST00000692961.1:c.5002C>T	ENSP00000509289.1:p.Arg1668Trp
ENST00000420124.4:c.5002C>T MANE Select	ENSP00000398837.2:p.Arg1668Trp
ENST00000673918.1:c.4936C>T	ENSP00000501283.1:p.Arg1646Trp
ENST00000674114.1:c.2324C>T
ENST00000420124.2:c.5002C>T	ENSP00000398837.1:p.Arg1668Trp
NM_014727.2:c.5002C>T	NP_055542.1:p.Arg1668Trp
XM_011527561.1:c.4936C>T	XP_011525863.1:p.Arg1646Trp
XM_011527562.1:c.5002C>T	XP_011525864.1:p.Arg1668Trp
XM_011527563.1:c.4726C>T	XP_011525865.1:p.Arg1576Trp
XM_011527561.2:c.4438C>T	XP_011525863.2:p.Arg1480Trp
XM_011527562.2:c.5002C>T	XP_011525864.1:p.Arg1668Trp
XM_017027544.1:c.5002C>T	XP_016883033.1:p.Arg1668Trp
XM_017027545.1:c.4438C>T	XP_016883034.1:p.Arg1480Trp
XM_017027546.1:c.1966C>T	XP_016883035.1:p.Arg656Trp
NM_014727.3:c.5002C>T MANE Select	NP_055542.1:p.Arg1668Trp