Canonical Allele Identifier: CA405424766

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2770674
• ClinVar RCV Id: RCV003580794
• MyVariant Identifiers: chr19:g.36223404G>A (hg19) ; chr19:g.35732503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732503G>A , CM000681.2:g.35732503G>A	GRCh38
NC_000019.9:g.36223404G>A , CM000681.1:g.36223404G>A	GRCh37
NC_000019.8:g.40915244G>A	NCBI36
NG_052906.1:g.19485G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.260G>A
ENST00000673918.2:c.5888G>A	ENSP00000501283.1:p.Gly1963Glu
ENST00000674114.2:c.3495G>A	ENSP00000501039.2:n.3495G>A
ENST00000684977.1:c.1172G>A	ENSP00000509384.1:p.Gly391Glu
ENST00000689544.1:n.1107G>A
ENST00000691421.1:c.1175G>A	ENSP00000508674.1:p.Gly392Glu
ENST00000691855.1:c.5496G>A
ENST00000692961.1:c.5954G>A	ENSP00000509289.1:p.Gly1985Glu
ENST00000693677.1:c.704+174G>A	ENSP00000509779.1:n.704+174G>A
ENST00000420124.4:c.5954G>A MANE Select	ENSP00000398837.2:p.Gly1985Glu
ENST00000673918.1:c.5888G>A	ENSP00000501283.1:p.Gly1963Glu
ENST00000674114.1:c.3276G>A
ENST00000420124.2:c.5954G>A	ENSP00000398837.1:p.Gly1985Glu
NM_014727.2:c.5954G>A	NP_055542.1:p.Gly1985Glu
XM_011527561.1:c.5888G>A	XP_011525863.1:p.Gly1963Glu
XM_011527562.1:c.5954G>A	XP_011525864.1:p.Gly1985Glu
XM_011527563.1:c.5678G>A	XP_011525865.1:p.Gly1893Glu
XM_011527561.2:c.5390G>A	XP_011525863.2:p.Gly1797Glu
XM_011527562.2:c.5954G>A	XP_011525864.1:p.Gly1985Glu
XM_017027544.1:c.5954G>A	XP_016883033.1:p.Gly1985Glu
XM_017027545.1:c.5390G>A	XP_016883034.1:p.Gly1797Glu
XM_017027546.1:c.2918G>A	XP_016883035.1:p.Gly973Glu
NM_014727.3:c.5954G>A MANE Select	NP_055542.1:p.Gly1985Glu