Canonical Allele Identifier: CA510212067

Gene: DNMT3B

Linked Data

• dbSNP Id: rs1484529764
• gnomAD v2: 20-31393189-C-T
• gnomAD v4: 20-32805383-C-T
• MyVariant Identifiers: chr20:g.31393189C>T (hg19) ; chr20:g.32805383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32805383C>T , CM000682.2:g.32805383C>T	GRCh38
NC_000020.10:g.31393189C>T , CM000682.1:g.31393189C>T	GRCh37
NC_000020.9:g.30856850C>T	NCBI36
NG_007290.1:g.47999C>T , LRG_56:g.47999C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1228C>T	ENSP00000512497.1:n.*1228C>T
ENST00000696232.1:c.2232-2379C>T	ENSP00000512498.1:n.2232-2379C>T
ENST00000696233.1:c.*975-2379C>T	ENSP00000512499.1:n.*975-2379C>T
ENST00000696238.1:c.*1020C>T	ENSP00000512502.1:n.*1020C>T
ENST00000696239.1:c.2058C>T	ENSP00000512503.1:p.Cys686=
ENST00000696245.1:n.327-826C>T
ENST00000201963.3:c.2253C>T	ENSP00000201963.3:p.Cys751=
ENST00000328111.6:c.2277C>T MANE Select	ENSP00000328547.2:p.Cys759=
ENST00000348286.6:c.2172-2379C>T	ENSP00000337764.2:n.2172-2379C>T
ENST00000353855.6:c.2217C>T	ENSP00000313397.4:p.Cys739=
ENST00000443239.7:c.2046-2379C>T	ENSP00000403169.2:n.2046-2379C>T
ENST00000456297.6:c.1944-2379C>T	ENSP00000412305.1:n.1944-2379C>T
NM_001207055.1:c.2046-2379C>T	NP_001193984.1:n.2046-2379C>T
NM_001207056.1:c.1944-2379C>T	NP_001193985.1:n.1944-2379C>T
NM_006892.3:c.2277C>T , LRG_56t1:c.2277C>T	NP_008823.1:p.Cys759=
NM_175848.1:c.2217C>T	NP_787044.1:p.Cys739=
NM_175849.1:c.2172-2379C>T	NP_787045.1:n.2172-2379C>T
NM_175850.2:c.2253C>T	NP_787046.1:p.Cys751=
XM_011528653.1:c.2208-2379C>T	XP_011526955.1:n.2208-2379C>T
XM_011528654.1:c.2082-2379C>T	XP_011526956.1:n.2082-2379C>T
XR_936510.1:n.2244C>T
XR_936511.1:n.2199-2379C>T
XR_936512.1:n.2119C>T
XM_011528653.2:c.2208-2379C>T	XP_011526955.1:n.2208-2379C>T
XM_011528654.2:c.2082-2379C>T	XP_011526956.1:n.2082-2379C>T
XR_936510.2:n.2255C>T
XR_936511.2:n.2210-2379C>T
XR_936512.2:n.2131C>T
NM_001207055.2:c.2046-2379C>T	NP_001193984.1:n.2046-2379C>T
NM_001207056.2:c.1944-2379C>T	NP_001193985.1:n.1944-2379C>T
NM_006892.4:c.2277C>T MANE Select	NP_008823.1:p.Cys759=
NM_175848.2:c.2217C>T	NP_787044.1:p.Cys739=
NM_175849.2:c.2172-2379C>T	NP_787045.1:n.2172-2379C>T
NM_175850.3:c.2253C>T	NP_787046.1:p.Cys751=