Canonical Allele Identifier: CA1555872

Gene: DNMT3A

Linked Data

• dbSNP Id: rs764679587
• ExAC: 2:25467082 C / T
• gnomAD v3: 2-25244213-C-T
• gnomAD v4: 2-25244213-C-T
• COSMIC: COSM2911781 ; COSM2911782
• MyVariant Identifiers: chr2:g.25467082C>T (hg19) ; chr2:g.25244213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244213C>T , CM000664.2:g.25244213C>T	GRCh38
NC_000002.11:g.25467082C>T , CM000664.1:g.25467082C>T	GRCh37
NC_000002.10:g.25320586C>T	NCBI36
NG_029465.2:g.103378G>A , LRG_459:g.103378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.112G>A
ENST00000683393.1:c.939G>A	ENSP00000508654.1:n.939G>A
ENST00000683760.1:c.1124G>A	ENSP00000507765.1:p.Arg375Gln
ENST00000321117.10:c.1793G>A MANE Select	ENSP00000324375.5:p.Arg598Gln
ENST00000264709.7:c.1793G>A	ENSP00000264709.3:p.Arg598Gln
ENST00000321117.9:c.1793G>A	ENSP00000324375.5:p.Arg598Gln
ENST00000380746.8:c.1226G>A	ENSP00000370122.4:p.Arg409Gln
ENST00000380756.7:c.1793G>A	ENSP00000370132.3:p.Arg598Gln
ENST00000402667.1:c.1124G>A	ENSP00000384237.1:p.Arg375Gln
ENST00000474887.5:n.112G>A
NM_022552.4:c.1793G>A , LRG_459t1:c.1793G>A	NP_072046.2:p.Arg598Gln
NM_153759.3:c.1226G>A , LRG_459t2:c.1226G>A	NP_715640.2:p.Arg409Gln
NM_175629.2:c.1793G>A , LRG_459t4:c.1793G>A	NP_783328.1:p.Arg598Gln
XM_005264175.3:c.1793G>A	XP_005264232.1:p.Arg598Gln
XM_005264177.3:c.1124G>A	XP_005264234.1:p.Arg375Gln
XM_006711957.2:c.1793G>A	XP_006712020.1:p.Arg598Gln
XM_006711958.2:c.1349G>A	XP_006712021.1:p.Arg450Gln
XM_011532662.1:c.1646G>A	XP_011530964.1:p.Arg549Gln
XM_011532663.1:c.1628G>A	XP_011530965.1:p.Arg543Gln
XM_011532664.1:c.1793G>A	XP_011530966.1:p.Arg598Gln
XM_011532665.1:c.1337G>A	XP_011530967.1:p.Arg446Gln
XM_011532666.1:c.1265G>A	XP_011530968.1:p.Arg422Gln
XM_011532667.1:c.1124G>A	XP_011530969.1:p.Arg375Gln
XM_011532668.1:c.1793G>A	XP_011530970.1:p.Arg598Gln
NM_001320893.1:c.1337G>A	NP_001307822.1:p.Arg446Gln
NR_135490.1:n.2131G>A
XM_005264175.5:c.1793G>A	XP_005264232.1:p.Arg598Gln
XM_005264177.4:c.1124G>A	XP_005264234.1:p.Arg375Gln
XM_011532662.2:c.1646G>A	XP_011530964.1:p.Arg549Gln
XM_011532663.2:c.1628G>A	XP_011530965.1:p.Arg543Gln
XM_011532664.2:c.1793G>A	XP_011530966.1:p.Arg598Gln
XM_011532666.2:c.1265G>A	XP_011530968.1:p.Arg422Gln
XM_011532667.3:c.1124G>A	XP_011530969.1:p.Arg375Gln
XM_017003526.1:c.1793G>A	XP_016859015.1:p.Arg598Gln
XM_017003527.1:c.1124G>A	XP_016859016.1:p.Arg375Gln
XR_001738657.1:n.2070G>A
NM_001375819.1:c.1124G>A	NP_001362748.1:p.Arg375Gln
NR_135490.2:n.2024G>A
NM_022552.5:c.1793G>A MANE Select	NP_072046.2:p.Arg598Gln