Canonical Allele Identifier: CA405426103

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2986494
• ClinVar RCV Id: RCV003844165
• dbSNP Id: rs1172025068
• gnomAD v2: 19-36223682-C-G
• gnomAD v3: 19-35732781-C-G
• gnomAD v4: 19-35732781-C-G
• MyVariant Identifiers: chr19:g.36223682C>G (hg19) ; chr19:g.35732781C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732781C>G , CM000681.2:g.35732781C>G	GRCh38
NC_000019.9:g.36223682C>G , CM000681.1:g.36223682C>G	GRCh37
NC_000019.8:g.40915522C>G	NCBI36
NG_052906.1:g.19763C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.538C>G
ENST00000673918.2:c.6166C>G	ENSP00000501283.1:p.Pro2056Ala
ENST00000674114.2:c.3773C>G	ENSP00000501039.2:n.3773C>G
ENST00000684977.1:c.1450C>G	ENSP00000509384.1:p.Pro484Ala
ENST00000689544.1:n.1385C>G
ENST00000691421.1:c.1453C>G	ENSP00000508674.1:p.Pro485Ala
ENST00000691855.1:c.5774C>G
ENST00000692961.1:c.6232C>G	ENSP00000509289.1:p.Pro2078Ala
ENST00000693677.1:c.704+452C>G	ENSP00000509779.1:n.704+452C>G
ENST00000420124.4:c.6232C>G MANE Select	ENSP00000398837.2:p.Pro2078Ala
ENST00000673918.1:c.6166C>G	ENSP00000501283.1:p.Pro2056Ala
ENST00000674114.1:c.3554C>G
ENST00000420124.2:c.6232C>G	ENSP00000398837.1:p.Pro2078Ala
NM_014727.2:c.6232C>G	NP_055542.1:p.Pro2078Ala
XM_011527561.1:c.6166C>G	XP_011525863.1:p.Pro2056Ala
XM_011527562.1:c.6232C>G	XP_011525864.1:p.Pro2078Ala
XM_011527563.1:c.5956C>G	XP_011525865.1:p.Pro1986Ala
XM_011527561.2:c.5668C>G	XP_011525863.2:p.Pro1890Ala
XM_011527562.2:c.6232C>G	XP_011525864.1:p.Pro2078Ala
XM_017027544.1:c.6232C>G	XP_016883033.1:p.Pro2078Ala
XM_017027545.1:c.5668C>G	XP_016883034.1:p.Pro1890Ala
XM_017027546.1:c.3196C>G	XP_016883035.1:p.Pro1066Ala
NM_014727.3:c.6232C>G MANE Select	NP_055542.1:p.Pro2078Ala