Canonical Allele Identifier: CA346069782

Gene: DNMT3A

Linked Data

• COSMIC: COSM5862263 ; COSM5862264
• MyVariant Identifiers: chr2:g.25463208C>T (hg19) ; chr2:g.25240339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240339C>T , CM000664.2:g.25240339C>T	GRCh38
NC_000002.11:g.25463208C>T , CM000664.1:g.25463208C>T	GRCh37
NC_000002.10:g.25316712C>T	NCBI36
NG_029465.2:g.107252G>A , LRG_459:g.107252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.604G>A
ENST00000683393.1:c.1431G>A	ENSP00000508654.1:n.1431G>A
ENST00000683760.1:c.1616G>A	ENSP00000507765.1:p.Gly539Asp
ENST00000321117.10:c.2285G>A MANE Select	ENSP00000324375.5:p.Gly762Asp
ENST00000264709.7:c.2285G>A	ENSP00000264709.3:p.Gly762Asp
ENST00000321117.9:c.2285G>A	ENSP00000324375.5:p.Gly762Asp
ENST00000380746.8:c.1718G>A	ENSP00000370122.4:p.Gly573Asp
ENST00000380756.7:c.2285G>A	ENSP00000370132.3:p.Gly762Asp
ENST00000402667.1:c.1616G>A	ENSP00000384237.1:p.Gly539Asp
ENST00000461228.1:n.504G>A
ENST00000466601.5:n.657G>A
ENST00000474887.5:n.604G>A
ENST00000482935.5:n.285G>A
ENST00000491288.5:n.310+301G>A
NM_022552.4:c.2285G>A , LRG_459t1:c.2285G>A	NP_072046.2:p.Gly762Asp
NM_153759.3:c.1718G>A , LRG_459t2:c.1718G>A	NP_715640.2:p.Gly573Asp
NM_175629.2:c.2285G>A , LRG_459t4:c.2285G>A	NP_783328.1:p.Gly762Asp
XM_005264175.3:c.2285G>A	XP_005264232.1:p.Gly762Asp
XM_005264177.3:c.1616G>A	XP_005264234.1:p.Gly539Asp
XM_006711957.2:c.2285G>A	XP_006712020.1:p.Gly762Asp
XM_006711958.2:c.1841G>A	XP_006712021.1:p.Gly614Asp
XM_011532662.1:c.2138G>A	XP_011530964.1:p.Gly713Asp
XM_011532663.1:c.2120G>A	XP_011530965.1:p.Gly707Asp
XM_011532664.1:c.2285G>A	XP_011530966.1:p.Gly762Asp
XM_011532665.1:c.1829G>A	XP_011530967.1:p.Gly610Asp
XM_011532666.1:c.1757G>A	XP_011530968.1:p.Gly586Asp
XM_011532667.1:c.1616G>A	XP_011530969.1:p.Gly539Asp
XM_011532668.1:c.2285G>A	XP_011530970.1:p.Gly762Asp
NM_001320893.1:c.1829G>A	NP_001307822.1:p.Gly610Asp
NR_135490.1:n.2623G>A
XM_005264175.5:c.2285G>A	XP_005264232.1:p.Gly762Asp
XM_005264177.4:c.1616G>A	XP_005264234.1:p.Gly539Asp
XM_011532662.2:c.2138G>A	XP_011530964.1:p.Gly713Asp
XM_011532663.2:c.2120G>A	XP_011530965.1:p.Gly707Asp
XM_011532664.2:c.2285G>A	XP_011530966.1:p.Gly762Asp
XM_011532666.2:c.1757G>A	XP_011530968.1:p.Gly586Asp
XM_011532667.3:c.1616G>A	XP_011530969.1:p.Gly539Asp
XM_017003526.1:c.2285G>A	XP_016859015.1:p.Gly762Asp
XM_017003527.1:c.1616G>A	XP_016859016.1:p.Gly539Asp
XR_001738657.1:n.2562G>A
NM_001375819.1:c.1616G>A	NP_001362748.1:p.Gly539Asp
NR_135490.2:n.2516G>A
NM_022552.5:c.2285G>A MANE Select	NP_072046.2:p.Gly762Asp