Canonical Allele Identifier: CA405424723

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2300670
• ClinVar RCV Id: RCV002850391
• dbSNP Id: rs1969745037
• MyVariant Identifiers: chr19:g.36223397G>A (hg19) ; chr19:g.35732496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732496G>A , CM000681.2:g.35732496G>A	GRCh38
NC_000019.9:g.36223397G>A , CM000681.1:g.36223397G>A	GRCh37
NC_000019.8:g.40915237G>A	NCBI36
NG_052906.1:g.19478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.253G>A
ENST00000673918.2:c.5881G>A	ENSP00000501283.1:p.Val1961Met
ENST00000674114.2:c.3488G>A	ENSP00000501039.2:n.3488G>A
ENST00000684977.1:c.1165G>A	ENSP00000509384.1:p.Val389Met
ENST00000689544.1:n.1100G>A
ENST00000691421.1:c.1168G>A	ENSP00000508674.1:p.Val390Met
ENST00000691855.1:c.5489G>A
ENST00000692961.1:c.5947G>A	ENSP00000509289.1:p.Val1983Met
ENST00000693677.1:c.704+167G>A	ENSP00000509779.1:n.704+167G>A
ENST00000420124.4:c.5947G>A MANE Select	ENSP00000398837.2:p.Val1983Met
ENST00000673918.1:c.5881G>A	ENSP00000501283.1:p.Val1961Met
ENST00000674114.1:c.3269G>A
ENST00000420124.2:c.5947G>A	ENSP00000398837.1:p.Val1983Met
NM_014727.2:c.5947G>A	NP_055542.1:p.Val1983Met
XM_011527561.1:c.5881G>A	XP_011525863.1:p.Val1961Met
XM_011527562.1:c.5947G>A	XP_011525864.1:p.Val1983Met
XM_011527563.1:c.5671G>A	XP_011525865.1:p.Val1891Met
XM_011527561.2:c.5383G>A	XP_011525863.2:p.Val1795Met
XM_011527562.2:c.5947G>A	XP_011525864.1:p.Val1983Met
XM_017027544.1:c.5947G>A	XP_016883033.1:p.Val1983Met
XM_017027545.1:c.5383G>A	XP_016883034.1:p.Val1795Met
XM_017027546.1:c.2911G>A	XP_016883035.1:p.Val971Met
NM_014727.3:c.5947G>A MANE Select	NP_055542.1:p.Val1983Met