Canonical Allele Identifier: CA16604098

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 379924
• ClinVar RCV Id: RCV000439792 ; RCV000536842
• dbSNP Id: rs1057520788
• MyVariant Identifiers: chr2:g.25467191A>G (hg19) ; chr2:g.25244322A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244322A>G , CM000664.2:g.25244322A>G	GRCh38
NC_000002.11:g.25467191A>G , CM000664.1:g.25467191A>G	GRCh37
NC_000002.10:g.25320695A>G	NCBI36
NG_029465.2:g.103269T>C , LRG_459:g.103269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.3T>C
ENST00000683393.1:c.830T>C	ENSP00000508654.1:n.830T>C
ENST00000683760.1:c.1015T>C	ENSP00000507765.1:p.Cys339Arg
ENST00000321117.10:c.1684T>C MANE Select	ENSP00000324375.5:p.Cys562Arg
ENST00000264709.7:c.1684T>C	ENSP00000264709.3:p.Cys562Arg
ENST00000321117.9:c.1684T>C	ENSP00000324375.5:p.Cys562Arg
ENST00000380746.8:c.1117T>C	ENSP00000370122.4:p.Cys373Arg
ENST00000380756.7:c.1684T>C	ENSP00000370132.3:p.Cys562Arg
ENST00000402667.1:c.1015T>C	ENSP00000384237.1:p.Cys339Arg
ENST00000474887.5:n.3T>C
NM_022552.4:c.1684T>C , LRG_459t1:c.1684T>C	NP_072046.2:p.Cys562Arg
NM_153759.3:c.1117T>C , LRG_459t2:c.1117T>C	NP_715640.2:p.Cys373Arg
NM_175629.2:c.1684T>C , LRG_459t4:c.1684T>C	NP_783328.1:p.Cys562Arg
XM_005264175.3:c.1684T>C	XP_005264232.1:p.Cys562Arg
XM_005264177.3:c.1015T>C	XP_005264234.1:p.Cys339Arg
XM_006711957.2:c.1684T>C	XP_006712020.1:p.Cys562Arg
XM_006711958.2:c.1240T>C	XP_006712021.1:p.Cys414Arg
XM_011532662.1:c.1537T>C	XP_011530964.1:p.Cys513Arg
XM_011532663.1:c.1519T>C	XP_011530965.1:p.Cys507Arg
XM_011532664.1:c.1684T>C	XP_011530966.1:p.Cys562Arg
XM_011532665.1:c.1228T>C	XP_011530967.1:p.Cys410Arg
XM_011532666.1:c.1156T>C	XP_011530968.1:p.Cys386Arg
XM_011532667.1:c.1015T>C	XP_011530969.1:p.Cys339Arg
XM_011532668.1:c.1684T>C	XP_011530970.1:p.Cys562Arg
NM_001320893.1:c.1228T>C	NP_001307822.1:p.Cys410Arg
NR_135490.1:n.2022T>C
XM_005264175.5:c.1684T>C	XP_005264232.1:p.Cys562Arg
XM_005264177.4:c.1015T>C	XP_005264234.1:p.Cys339Arg
XM_011532662.2:c.1537T>C	XP_011530964.1:p.Cys513Arg
XM_011532663.2:c.1519T>C	XP_011530965.1:p.Cys507Arg
XM_011532664.2:c.1684T>C	XP_011530966.1:p.Cys562Arg
XM_011532666.2:c.1156T>C	XP_011530968.1:p.Cys386Arg
XM_011532667.3:c.1015T>C	XP_011530969.1:p.Cys339Arg
XM_017003526.1:c.1684T>C	XP_016859015.1:p.Cys562Arg
XM_017003527.1:c.1015T>C	XP_016859016.1:p.Cys339Arg
XR_001738657.1:n.1961T>C
NM_001375819.1:c.1015T>C	NP_001362748.1:p.Cys339Arg
NR_135490.2:n.1915T>C
NM_022552.5:c.1684T>C MANE Select	NP_072046.2:p.Cys562Arg