Canonical Allele Identifier: CA405427901

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732890-T-G
• MyVariant Identifiers: chr19:g.36223791T>G (hg19) ; chr19:g.35732890T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732890T>G , CM000681.2:g.35732890T>G	GRCh38
NC_000019.9:g.36223791T>G , CM000681.1:g.36223791T>G	GRCh37
NC_000019.8:g.40915631T>G	NCBI36
NG_052906.1:g.19872T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.647T>G
ENST00000673918.2:c.6275T>G	ENSP00000501283.1:p.Val2092Gly
ENST00000674114.2:c.3882T>G	ENSP00000501039.2:n.3882T>G
ENST00000684977.1:c.1559T>G	ENSP00000509384.1:p.Val520Gly
ENST00000689544.1:n.1494T>G
ENST00000691421.1:c.1562T>G	ENSP00000508674.1:p.Val521Gly
ENST00000691855.1:c.5883T>G
ENST00000692961.1:c.6341T>G	ENSP00000509289.1:p.Val2114Gly
ENST00000693677.1:c.704+561T>G	ENSP00000509779.1:n.704+561T>G
ENST00000420124.4:c.6341T>G MANE Select	ENSP00000398837.2:p.Val2114Gly
ENST00000673918.1:c.6275T>G	ENSP00000501283.1:p.Val2092Gly
ENST00000674114.1:c.3663T>G
ENST00000420124.2:c.6341T>G	ENSP00000398837.1:p.Val2114Gly
NM_014727.2:c.6341T>G	NP_055542.1:p.Val2114Gly
XM_011527561.1:c.6275T>G	XP_011525863.1:p.Val2092Gly
XM_011527562.1:c.6341T>G	XP_011525864.1:p.Val2114Gly
XM_011527563.1:c.6065T>G	XP_011525865.1:p.Val2022Gly
XM_011527561.2:c.5777T>G	XP_011525863.2:p.Val1926Gly
XM_011527562.2:c.6341T>G	XP_011525864.1:p.Val2114Gly
XM_017027544.1:c.6341T>G	XP_016883033.1:p.Val2114Gly
XM_017027545.1:c.5777T>G	XP_016883034.1:p.Val1926Gly
XM_017027546.1:c.3305T>G	XP_016883035.1:p.Val1102Gly
NM_014727.3:c.6341T>G MANE Select	NP_055542.1:p.Val2114Gly