Canonical Allele Identifier: CA408592222

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 2440982
• ClinVar RCV Id: RCV003146811
• MyVariant Identifiers: chr20:g.31393203G>A (hg19) ; chr20:g.32805397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32805397G>A , CM000682.2:g.32805397G>A	GRCh38
NC_000020.10:g.31393203G>A , CM000682.1:g.31393203G>A	GRCh37
NC_000020.9:g.30856864G>A	NCBI36
NG_007290.1:g.48013G>A , LRG_56:g.48013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1242G>A	ENSP00000512497.1:n.*1242G>A
ENST00000696232.1:c.2232-2365G>A	ENSP00000512498.1:n.2232-2365G>A
ENST00000696233.1:c.*975-2365G>A	ENSP00000512499.1:n.*975-2365G>A
ENST00000696238.1:c.*1034G>A	ENSP00000512502.1:n.*1034G>A
ENST00000696239.1:c.2072G>A	ENSP00000512503.1:p.Arg691Lys
ENST00000696245.1:n.327-812G>A
ENST00000201963.3:c.2267G>A	ENSP00000201963.3:p.Arg756Lys
ENST00000328111.6:c.2291G>A MANE Select	ENSP00000328547.2:p.Arg764Lys
ENST00000348286.6:c.2172-2365G>A	ENSP00000337764.2:n.2172-2365G>A
ENST00000353855.6:c.2231G>A	ENSP00000313397.4:p.Arg744Lys
ENST00000443239.7:c.2046-2365G>A	ENSP00000403169.2:n.2046-2365G>A
ENST00000456297.6:c.1944-2365G>A	ENSP00000412305.1:n.1944-2365G>A
NM_001207055.1:c.2046-2365G>A	NP_001193984.1:n.2046-2365G>A
NM_001207056.1:c.1944-2365G>A	NP_001193985.1:n.1944-2365G>A
NM_006892.3:c.2291G>A , LRG_56t1:c.2291G>A	NP_008823.1:p.Arg764Lys
NM_175848.1:c.2231G>A	NP_787044.1:p.Arg744Lys
NM_175849.1:c.2172-2365G>A	NP_787045.1:n.2172-2365G>A
NM_175850.2:c.2267G>A	NP_787046.1:p.Arg756Lys
XM_011528653.1:c.2208-2365G>A	XP_011526955.1:n.2208-2365G>A
XM_011528654.1:c.2082-2365G>A	XP_011526956.1:n.2082-2365G>A
XR_936510.1:n.2258G>A
XR_936511.1:n.2199-2365G>A
XR_936512.1:n.2133G>A
XM_011528653.2:c.2208-2365G>A	XP_011526955.1:n.2208-2365G>A
XM_011528654.2:c.2082-2365G>A	XP_011526956.1:n.2082-2365G>A
XR_936510.2:n.2269G>A
XR_936511.2:n.2210-2365G>A
XR_936512.2:n.2145G>A
NM_001207055.2:c.2046-2365G>A	NP_001193984.1:n.2046-2365G>A
NM_001207056.2:c.1944-2365G>A	NP_001193985.1:n.1944-2365G>A
NM_006892.4:c.2291G>A MANE Select	NP_008823.1:p.Arg764Lys
NM_175848.2:c.2231G>A	NP_787044.1:p.Arg744Lys
NM_175849.2:c.2172-2365G>A	NP_787045.1:n.2172-2365G>A
NM_175850.3:c.2267G>A	NP_787046.1:p.Arg756Lys