Canonical Allele Identifier: CA9385559

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1583968
• ClinVar RCV Id: RCV002112114 ; RCV004045792
• dbSNP Id: rs146177906
• ExAC: 19:36223338 C / T
• gnomAD v2: 19-36223338-C-T
• gnomAD v3: 19-35732437-C-T
• gnomAD v4: 19-35732437-C-T
• MyVariant Identifiers: chr19:g.36223338C>T (hg19) ; chr19:g.35732437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732437C>T , CM000681.2:g.35732437C>T	GRCh38
NC_000019.9:g.36223338C>T , CM000681.1:g.36223338C>T	GRCh37
NC_000019.8:g.40915178C>T	NCBI36
NG_052906.1:g.19419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.194C>T
ENST00000673918.2:c.5822C>T	ENSP00000501283.1:p.Pro1941Leu
ENST00000674114.2:c.3429C>T	ENSP00000501039.2:n.3429C>T
ENST00000684977.1:c.1106C>T	ENSP00000509384.1:p.Pro369Leu
ENST00000689544.1:n.1041C>T
ENST00000691421.1:c.1109C>T	ENSP00000508674.1:p.Pro370Leu
ENST00000691855.1:c.5430C>T
ENST00000692961.1:c.5888C>T	ENSP00000509289.1:p.Pro1963Leu
ENST00000693677.1:c.704+108C>T	ENSP00000509779.1:n.704+108C>T
ENST00000420124.4:c.5888C>T MANE Select	ENSP00000398837.2:p.Pro1963Leu
ENST00000673918.1:c.5822C>T	ENSP00000501283.1:p.Pro1941Leu
ENST00000674114.1:c.3210C>T
ENST00000420124.2:c.5888C>T	ENSP00000398837.1:p.Pro1963Leu
NM_014727.2:c.5888C>T	NP_055542.1:p.Pro1963Leu
XM_011527561.1:c.5822C>T	XP_011525863.1:p.Pro1941Leu
XM_011527562.1:c.5888C>T	XP_011525864.1:p.Pro1963Leu
XM_011527563.1:c.5612C>T	XP_011525865.1:p.Pro1871Leu
XM_011527561.2:c.5324C>T	XP_011525863.2:p.Pro1775Leu
XM_011527562.2:c.5888C>T	XP_011525864.1:p.Pro1963Leu
XM_017027544.1:c.5888C>T	XP_016883033.1:p.Pro1963Leu
XM_017027545.1:c.5324C>T	XP_016883034.1:p.Pro1775Leu
XM_017027546.1:c.2852C>T	XP_016883035.1:p.Pro951Leu
NM_014727.3:c.5888C>T MANE Select	NP_055542.1:p.Pro1963Leu