Canonical Allele Identifier: CA346069871

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1418213272
• gnomAD v3: 2-25240358-C-T
• gnomAD v4: 2-25240358-C-T
• MyVariant Identifiers: chr2:g.25463227C>T (hg19) ; chr2:g.25240358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240358C>T , CM000664.2:g.25240358C>T	GRCh38
NC_000002.11:g.25463227C>T , CM000664.1:g.25463227C>T	GRCh37
NC_000002.10:g.25316731C>T	NCBI36
NG_029465.2:g.107233G>A , LRG_459:g.107233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.585G>A
ENST00000683393.1:c.1412G>A	ENSP00000508654.1:n.1412G>A
ENST00000683760.1:c.1597G>A	ENSP00000507765.1:p.Glu533Lys
ENST00000321117.10:c.2266G>A MANE Select	ENSP00000324375.5:p.Glu756Lys
ENST00000264709.7:c.2266G>A	ENSP00000264709.3:p.Glu756Lys
ENST00000321117.9:c.2266G>A	ENSP00000324375.5:p.Glu756Lys
ENST00000380746.8:c.1699G>A	ENSP00000370122.4:p.Glu567Lys
ENST00000380756.7:c.2266G>A	ENSP00000370132.3:p.Glu756Lys
ENST00000402667.1:c.1597G>A	ENSP00000384237.1:p.Glu533Lys
ENST00000461228.1:n.485G>A
ENST00000466601.5:n.638G>A
ENST00000474887.5:n.585G>A
ENST00000482935.5:n.266G>A
ENST00000491288.5:n.310+282G>A
NM_022552.4:c.2266G>A , LRG_459t1:c.2266G>A	NP_072046.2:p.Glu756Lys
NM_153759.3:c.1699G>A , LRG_459t2:c.1699G>A	NP_715640.2:p.Glu567Lys
NM_175629.2:c.2266G>A , LRG_459t4:c.2266G>A	NP_783328.1:p.Glu756Lys
XM_005264175.3:c.2266G>A	XP_005264232.1:p.Glu756Lys
XM_005264177.3:c.1597G>A	XP_005264234.1:p.Glu533Lys
XM_006711957.2:c.2266G>A	XP_006712020.1:p.Glu756Lys
XM_006711958.2:c.1822G>A	XP_006712021.1:p.Glu608Lys
XM_011532662.1:c.2119G>A	XP_011530964.1:p.Glu707Lys
XM_011532663.1:c.2101G>A	XP_011530965.1:p.Glu701Lys
XM_011532664.1:c.2266G>A	XP_011530966.1:p.Glu756Lys
XM_011532665.1:c.1810G>A	XP_011530967.1:p.Glu604Lys
XM_011532666.1:c.1738G>A	XP_011530968.1:p.Glu580Lys
XM_011532667.1:c.1597G>A	XP_011530969.1:p.Glu533Lys
XM_011532668.1:c.2266G>A	XP_011530970.1:p.Glu756Lys
NM_001320893.1:c.1810G>A	NP_001307822.1:p.Glu604Lys
NR_135490.1:n.2604G>A
XM_005264175.5:c.2266G>A	XP_005264232.1:p.Glu756Lys
XM_005264177.4:c.1597G>A	XP_005264234.1:p.Glu533Lys
XM_011532662.2:c.2119G>A	XP_011530964.1:p.Glu707Lys
XM_011532663.2:c.2101G>A	XP_011530965.1:p.Glu701Lys
XM_011532664.2:c.2266G>A	XP_011530966.1:p.Glu756Lys
XM_011532666.2:c.1738G>A	XP_011530968.1:p.Glu580Lys
XM_011532667.3:c.1597G>A	XP_011530969.1:p.Glu533Lys
XM_017003526.1:c.2266G>A	XP_016859015.1:p.Glu756Lys
XM_017003527.1:c.1597G>A	XP_016859016.1:p.Glu533Lys
XR_001738657.1:n.2543G>A
NM_001375819.1:c.1597G>A	NP_001362748.1:p.Glu533Lys
NR_135490.2:n.2497G>A
NM_022552.5:c.2266G>A MANE Select	NP_072046.2:p.Glu756Lys