Canonical Allele Identifier: CA405428226

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1937514
• ClinVar RCV Id: RCV002627686
• dbSNP Id: rs1969768651
• gnomAD v3: 19-35732941-C-G
• gnomAD v4: 19-35732941-C-G
• MyVariant Identifiers: chr19:g.36223842C>G (hg19) ; chr19:g.35732941C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732941C>G , CM000681.2:g.35732941C>G	GRCh38
NC_000019.9:g.36223842C>G , CM000681.1:g.36223842C>G	GRCh37
NC_000019.8:g.40915682C>G	NCBI36
NG_052906.1:g.19923C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.698C>G
ENST00000673918.2:c.6326C>G	ENSP00000501283.1:p.Pro2109Arg
ENST00000674114.2:c.3933C>G	ENSP00000501039.2:n.3933C>G
ENST00000684977.1:c.1610C>G	ENSP00000509384.1:p.Pro537Arg
ENST00000689544.1:n.1545C>G
ENST00000691421.1:c.1613C>G	ENSP00000508674.1:p.Pro538Arg
ENST00000691855.1:c.5934C>G
ENST00000692961.1:c.6392C>G	ENSP00000509289.1:p.Pro2131Arg
ENST00000693677.1:c.704+612C>G	ENSP00000509779.1:n.704+612C>G
ENST00000420124.4:c.6392C>G MANE Select	ENSP00000398837.2:p.Pro2131Arg
ENST00000673918.1:c.6326C>G	ENSP00000501283.1:p.Pro2109Arg
ENST00000674114.1:c.3714C>G
ENST00000420124.2:c.6392C>G	ENSP00000398837.1:p.Pro2131Arg
NM_014727.2:c.6392C>G	NP_055542.1:p.Pro2131Arg
XM_011527561.1:c.6326C>G	XP_011525863.1:p.Pro2109Arg
XM_011527562.1:c.6392C>G	XP_011525864.1:p.Pro2131Arg
XM_011527563.1:c.6116C>G	XP_011525865.1:p.Pro2039Arg
XM_011527561.2:c.5828C>G	XP_011525863.2:p.Pro1943Arg
XM_011527562.2:c.6392C>G	XP_011525864.1:p.Pro2131Arg
XM_017027544.1:c.6392C>G	XP_016883033.1:p.Pro2131Arg
XM_017027545.1:c.5828C>G	XP_016883034.1:p.Pro1943Arg
XM_017027546.1:c.3356C>G	XP_016883035.1:p.Pro1119Arg
NM_014727.3:c.6392C>G MANE Select	NP_055542.1:p.Pro2131Arg