Canonical Allele Identifier: CA9385688

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2199933
• ClinVar RCV Id: RCV002625216 ; RCV004072017
• dbSNP Id: rs764904668
• ExAC: 19:36223893 C / G
• gnomAD v2: 19-36223893-C-G
• gnomAD v3: 19-35732992-C-G
• gnomAD v4: 19-35732992-C-G
• MyVariant Identifiers: chr19:g.36223893C>G (hg19) ; chr19:g.35732992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732992C>G , CM000681.2:g.35732992C>G	GRCh38
NC_000019.9:g.36223893C>G , CM000681.1:g.36223893C>G	GRCh37
NC_000019.8:g.40915733C>G	NCBI36
NG_052906.1:g.19974C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.749C>G
ENST00000673918.2:c.6377C>G	ENSP00000501283.1:p.Pro2126Arg
ENST00000674114.2:c.3984C>G	ENSP00000501039.2:n.3984C>G
ENST00000684977.1:c.1661C>G	ENSP00000509384.1:p.Pro554Arg
ENST00000689544.1:n.1596C>G
ENST00000691421.1:c.1664C>G	ENSP00000508674.1:p.Pro555Arg
ENST00000691855.1:c.5985C>G
ENST00000692961.1:c.6443C>G	ENSP00000509289.1:p.Pro2148Arg
ENST00000693677.1:c.705-605C>G	ENSP00000509779.1:n.705-605C>G
ENST00000420124.4:c.6443C>G MANE Select	ENSP00000398837.2:p.Pro2148Arg
ENST00000673918.1:c.6377C>G	ENSP00000501283.1:p.Pro2126Arg
ENST00000674114.1:c.3765C>G
ENST00000420124.2:c.6443C>G	ENSP00000398837.1:p.Pro2148Arg
NM_014727.2:c.6443C>G	NP_055542.1:p.Pro2148Arg
XM_011527561.1:c.6377C>G	XP_011525863.1:p.Pro2126Arg
XM_011527562.1:c.6443C>G	XP_011525864.1:p.Pro2148Arg
XM_011527563.1:c.6167C>G	XP_011525865.1:p.Pro2056Arg
XM_011527561.2:c.5879C>G	XP_011525863.2:p.Pro1960Arg
XM_011527562.2:c.6443C>G	XP_011525864.1:p.Pro2148Arg
XM_017027544.1:c.6443C>G	XP_016883033.1:p.Pro2148Arg
XM_017027545.1:c.5879C>G	XP_016883034.1:p.Pro1960Arg
XM_017027546.1:c.3407C>G	XP_016883035.1:p.Pro1136Arg
NM_014727.3:c.6443C>G MANE Select	NP_055542.1:p.Pro2148Arg