Canonical Allele Identifier: CA405427687

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732857-C-T
• COSMIC: COSM711928
• MyVariant Identifiers: chr19:g.36223758C>T (hg19) ; chr19:g.35732857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732857C>T , CM000681.2:g.35732857C>T	GRCh38
NC_000019.9:g.36223758C>T , CM000681.1:g.36223758C>T	GRCh37
NC_000019.8:g.40915598C>T	NCBI36
NG_052906.1:g.19839C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.614C>T
ENST00000673918.2:c.6242C>T	ENSP00000501283.1:p.Ala2081Val
ENST00000674114.2:c.3849C>T	ENSP00000501039.2:n.3849C>T
ENST00000684977.1:c.1526C>T	ENSP00000509384.1:p.Ala509Val
ENST00000689544.1:n.1461C>T
ENST00000691421.1:c.1529C>T	ENSP00000508674.1:p.Ala510Val
ENST00000691855.1:c.5850C>T
ENST00000692961.1:c.6308C>T	ENSP00000509289.1:p.Ala2103Val
ENST00000693677.1:c.704+528C>T	ENSP00000509779.1:n.704+528C>T
ENST00000420124.4:c.6308C>T MANE Select	ENSP00000398837.2:p.Ala2103Val
ENST00000673918.1:c.6242C>T	ENSP00000501283.1:p.Ala2081Val
ENST00000674114.1:c.3630C>T
ENST00000420124.2:c.6308C>T	ENSP00000398837.1:p.Ala2103Val
NM_014727.2:c.6308C>T	NP_055542.1:p.Ala2103Val
XM_011527561.1:c.6242C>T	XP_011525863.1:p.Ala2081Val
XM_011527562.1:c.6308C>T	XP_011525864.1:p.Ala2103Val
XM_011527563.1:c.6032C>T	XP_011525865.1:p.Ala2011Val
XM_011527561.2:c.5744C>T	XP_011525863.2:p.Ala1915Val
XM_011527562.2:c.6308C>T	XP_011525864.1:p.Ala2103Val
XM_017027544.1:c.6308C>T	XP_016883033.1:p.Ala2103Val
XM_017027545.1:c.5744C>T	XP_016883034.1:p.Ala1915Val
XM_017027546.1:c.3272C>T	XP_016883035.1:p.Ala1091Val
NM_014727.3:c.6308C>T MANE Select	NP_055542.1:p.Ala2103Val