Canonical Allele Identifier: CA346072025

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 1685302
• ClinVar RCV Id: RCV002249029
• dbSNP Id: rs1313738991
• MyVariant Identifiers: chr2:g.25467199C>T (hg19) ; chr2:g.25244330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244330C>T , CM000664.2:g.25244330C>T	GRCh38
NC_000002.11:g.25467199C>T , CM000664.1:g.25467199C>T	GRCh37
NC_000002.10:g.25320703C>T	NCBI36
NG_029465.2:g.103261G>A , LRG_459:g.103261G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683393.1:c.822G>A	ENSP00000508654.1:n.822G>A
ENST00000683760.1:c.1007G>A	ENSP00000507765.1:p.Cys336Tyr
ENST00000321117.10:c.1676G>A MANE Select	ENSP00000324375.5:p.Cys559Tyr
ENST00000264709.7:c.1676G>A	ENSP00000264709.3:p.Cys559Tyr
ENST00000321117.9:c.1676G>A	ENSP00000324375.5:p.Cys559Tyr
ENST00000380746.8:c.1109G>A	ENSP00000370122.4:p.Cys370Tyr
ENST00000380756.7:c.1676G>A	ENSP00000370132.3:p.Cys559Tyr
ENST00000402667.1:c.1007G>A	ENSP00000384237.1:p.Cys336Tyr
NM_022552.4:c.1676G>A , LRG_459t1:c.1676G>A	NP_072046.2:p.Cys559Tyr
NM_153759.3:c.1109G>A , LRG_459t2:c.1109G>A	NP_715640.2:p.Cys370Tyr
NM_175629.2:c.1676G>A , LRG_459t4:c.1676G>A	NP_783328.1:p.Cys559Tyr
XM_005264175.3:c.1676G>A	XP_005264232.1:p.Cys559Tyr
XM_005264177.3:c.1007G>A	XP_005264234.1:p.Cys336Tyr
XM_006711957.2:c.1676G>A	XP_006712020.1:p.Cys559Tyr
XM_006711958.2:c.1232G>A	XP_006712021.1:p.Cys411Tyr
XM_011532662.1:c.1529G>A	XP_011530964.1:p.Cys510Tyr
XM_011532663.1:c.1511G>A	XP_011530965.1:p.Cys504Tyr
XM_011532664.1:c.1676G>A	XP_011530966.1:p.Cys559Tyr
XM_011532665.1:c.1220G>A	XP_011530967.1:p.Cys407Tyr
XM_011532666.1:c.1148G>A	XP_011530968.1:p.Cys383Tyr
XM_011532667.1:c.1007G>A	XP_011530969.1:p.Cys336Tyr
XM_011532668.1:c.1676G>A	XP_011530970.1:p.Cys559Tyr
NM_001320893.1:c.1220G>A	NP_001307822.1:p.Cys407Tyr
NR_135490.1:n.2014G>A
XM_005264175.5:c.1676G>A	XP_005264232.1:p.Cys559Tyr
XM_005264177.4:c.1007G>A	XP_005264234.1:p.Cys336Tyr
XM_011532662.2:c.1529G>A	XP_011530964.1:p.Cys510Tyr
XM_011532663.2:c.1511G>A	XP_011530965.1:p.Cys504Tyr
XM_011532664.2:c.1676G>A	XP_011530966.1:p.Cys559Tyr
XM_011532666.2:c.1148G>A	XP_011530968.1:p.Cys383Tyr
XM_011532667.3:c.1007G>A	XP_011530969.1:p.Cys336Tyr
XM_017003526.1:c.1676G>A	XP_016859015.1:p.Cys559Tyr
XM_017003527.1:c.1007G>A	XP_016859016.1:p.Cys336Tyr
XR_001738657.1:n.1953G>A
NM_001375819.1:c.1007G>A	NP_001362748.1:p.Cys336Tyr
NR_135490.2:n.1907G>A
NM_022552.5:c.1676G>A MANE Select	NP_072046.2:p.Cys559Tyr