Canonical Allele Identifier: CA9385563

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2081784
• ClinVar RCV Id: RCV002995612
• dbSNP Id: rs201138169
• ExAC: 19:36223347 C / T
• gnomAD v2: 19-36223347-C-T
• gnomAD v3: 19-35732446-C-T
• gnomAD v4: 19-35732446-C-T
• COSMIC: COSM3198532
• MyVariant Identifiers: chr19:g.36223347C>T (hg19) ; chr19:g.35732446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732446C>T , CM000681.2:g.35732446C>T	GRCh38
NC_000019.9:g.36223347C>T , CM000681.1:g.36223347C>T	GRCh37
NC_000019.8:g.40915187C>T	NCBI36
NG_052906.1:g.19428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.203C>T
ENST00000673918.2:c.5831C>T	ENSP00000501283.1:p.Ser1944Phe
ENST00000674114.2:c.3438C>T	ENSP00000501039.2:n.3438C>T
ENST00000684977.1:c.1115C>T	ENSP00000509384.1:p.Ser372Phe
ENST00000689544.1:n.1050C>T
ENST00000691421.1:c.1118C>T	ENSP00000508674.1:p.Ser373Phe
ENST00000691855.1:c.5439C>T
ENST00000692961.1:c.5897C>T	ENSP00000509289.1:p.Ser1966Phe
ENST00000693677.1:c.704+117C>T	ENSP00000509779.1:n.704+117C>T
ENST00000420124.4:c.5897C>T MANE Select	ENSP00000398837.2:p.Ser1966Phe
ENST00000673918.1:c.5831C>T	ENSP00000501283.1:p.Ser1944Phe
ENST00000674114.1:c.3219C>T
ENST00000420124.2:c.5897C>T	ENSP00000398837.1:p.Ser1966Phe
NM_014727.2:c.5897C>T	NP_055542.1:p.Ser1966Phe
XM_011527561.1:c.5831C>T	XP_011525863.1:p.Ser1944Phe
XM_011527562.1:c.5897C>T	XP_011525864.1:p.Ser1966Phe
XM_011527563.1:c.5621C>T	XP_011525865.1:p.Ser1874Phe
XM_011527561.2:c.5333C>T	XP_011525863.2:p.Ser1778Phe
XM_011527562.2:c.5897C>T	XP_011525864.1:p.Ser1966Phe
XM_017027544.1:c.5897C>T	XP_016883033.1:p.Ser1966Phe
XM_017027545.1:c.5333C>T	XP_016883034.1:p.Ser1778Phe
XM_017027546.1:c.2861C>T	XP_016883035.1:p.Ser954Phe
NM_014727.3:c.5897C>T MANE Select	NP_055542.1:p.Ser1966Phe