Canonical Allele Identifier: CA405424828

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2037945
• ClinVar RCV Id: RCV002890349
• MyVariant Identifiers: chr19:g.36223413C>T (hg19) ; chr19:g.35732512C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732512C>T , CM000681.2:g.35732512C>T	GRCh38
NC_000019.9:g.36223413C>T , CM000681.1:g.36223413C>T	GRCh37
NC_000019.8:g.40915253C>T	NCBI36
NG_052906.1:g.19494C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.269C>T
ENST00000673918.2:c.5897C>T	ENSP00000501283.1:p.Ala1966Val
ENST00000674114.2:c.3504C>T	ENSP00000501039.2:n.3504C>T
ENST00000684977.1:c.1181C>T	ENSP00000509384.1:p.Ala394Val
ENST00000689544.1:n.1116C>T
ENST00000691421.1:c.1184C>T	ENSP00000508674.1:p.Ala395Val
ENST00000691855.1:c.5505C>T
ENST00000692961.1:c.5963C>T	ENSP00000509289.1:p.Ala1988Val
ENST00000693677.1:c.704+183C>T	ENSP00000509779.1:n.704+183C>T
ENST00000420124.4:c.5963C>T MANE Select	ENSP00000398837.2:p.Ala1988Val
ENST00000673918.1:c.5897C>T	ENSP00000501283.1:p.Ala1966Val
ENST00000674114.1:c.3285C>T
ENST00000420124.2:c.5963C>T	ENSP00000398837.1:p.Ala1988Val
NM_014727.2:c.5963C>T	NP_055542.1:p.Ala1988Val
XM_011527561.1:c.5897C>T	XP_011525863.1:p.Ala1966Val
XM_011527562.1:c.5963C>T	XP_011525864.1:p.Ala1988Val
XM_011527563.1:c.5687C>T	XP_011525865.1:p.Ala1896Val
XM_011527561.2:c.5399C>T	XP_011525863.2:p.Ala1800Val
XM_011527562.2:c.5963C>T	XP_011525864.1:p.Ala1988Val
XM_017027544.1:c.5963C>T	XP_016883033.1:p.Ala1988Val
XM_017027545.1:c.5399C>T	XP_016883034.1:p.Ala1800Val
XM_017027546.1:c.2927C>T	XP_016883035.1:p.Ala976Val
NM_014727.3:c.5963C>T MANE Select	NP_055542.1:p.Ala1988Val