Canonical Allele Identifier: CA405429758

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 916169
• ClinVar RCV Id: RCV001171702
• dbSNP Id: rs1969784030
• gnomAD v4: 19-35733210-C-T
• MyVariant Identifiers: chr19:g.36224111C>T (hg19) ; chr19:g.35733210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733210C>T , CM000681.2:g.35733210C>T	GRCh38
NC_000019.9:g.36224111C>T , CM000681.1:g.36224111C>T	GRCh37
NC_000019.8:g.40915951C>T	NCBI36
NG_052906.1:g.20192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.967C>T
ENST00000673918.2:c.6595C>T	ENSP00000501283.1:p.Pro2199Ser
ENST00000674114.2:c.4202C>T	ENSP00000501039.2:n.4202C>T
ENST00000684977.1:c.1879C>T	ENSP00000509384.1:p.Pro627Ser
ENST00000689544.1:n.1814C>T
ENST00000691421.1:c.1882C>T	ENSP00000508674.1:p.Pro628Ser
ENST00000691855.1:c.6203C>T
ENST00000692961.1:c.6661C>T	ENSP00000509289.1:p.Pro2221Ser
ENST00000693677.1:c.705-387C>T	ENSP00000509779.1:n.705-387C>T
ENST00000420124.4:c.6661C>T MANE Select	ENSP00000398837.2:p.Pro2221Ser
ENST00000673918.1:c.6595C>T	ENSP00000501283.1:p.Pro2199Ser
ENST00000674114.1:c.3983C>T
ENST00000420124.2:c.6661C>T	ENSP00000398837.1:p.Pro2221Ser
NM_014727.2:c.6661C>T	NP_055542.1:p.Pro2221Ser
XM_011527561.1:c.6595C>T	XP_011525863.1:p.Pro2199Ser
XM_011527562.1:c.6661C>T	XP_011525864.1:p.Pro2221Ser
XM_011527563.1:c.6385C>T	XP_011525865.1:p.Pro2129Ser
XM_011527561.2:c.6097C>T	XP_011525863.2:p.Pro2033Ser
XM_011527562.2:c.6661C>T	XP_011525864.1:p.Pro2221Ser
XM_017027544.1:c.6661C>T	XP_016883033.1:p.Pro2221Ser
XM_017027545.1:c.6097C>T	XP_016883034.1:p.Pro2033Ser
XM_017027546.1:c.3625C>T	XP_016883035.1:p.Pro1209Ser
NM_014727.3:c.6661C>T MANE Select	NP_055542.1:p.Pro2221Ser