Canonical Allele Identifier: CA346068262

Gene: DNMT3A

Linked Data

• dbSNP Id: rs2149253315
• gnomAD v4: 2-25234412-C-G
• MyVariant Identifiers: chr2:g.25457281C>G (hg19) ; chr2:g.25234412C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234412C>G , CM000664.2:g.25234412C>G	GRCh38
NC_000002.11:g.25457281C>G , CM000664.1:g.25457281C>G	GRCh37
NC_000002.10:g.25310785C>G	NCBI36
NG_029465.2:g.113179G>C , LRG_459:g.113179G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.855G>C
ENST00000683393.1:c.1752G>C	ENSP00000508654.1:n.1752G>C
ENST00000683760.1:c.1937G>C	ENSP00000507765.1:p.Gly646Ala
ENST00000321117.10:c.2606G>C MANE Select	ENSP00000324375.5:p.Gly869Ala
ENST00000264709.7:c.2606G>C	ENSP00000264709.3:p.Gly869Ala
ENST00000321117.9:c.2606G>C	ENSP00000324375.5:p.Gly869Ala
ENST00000380746.8:c.2039G>C	ENSP00000370122.4:p.Gly680Ala
ENST00000380756.7:c.*459G>C	ENSP00000370132.3:n.*459G>C
ENST00000402667.1:c.1937G>C	ENSP00000384237.1:p.Gly646Ala
NM_022552.4:c.2606G>C , LRG_459t1:c.2606G>C	NP_072046.2:p.Gly869Ala
NM_153759.3:c.2039G>C , LRG_459t2:c.2039G>C	NP_715640.2:p.Gly680Ala
NM_175629.2:c.2606G>C , LRG_459t4:c.2606G>C	NP_783328.1:p.Gly869Ala
XM_005264175.3:c.2606G>C	XP_005264232.1:p.Gly869Ala
XM_005264177.3:c.1937G>C	XP_005264234.1:p.Gly646Ala
XM_006711958.2:c.2162G>C	XP_006712021.1:p.Gly721Ala
XM_011532662.1:c.2459G>C	XP_011530964.1:p.Gly820Ala
XM_011532663.1:c.2441G>C	XP_011530965.1:p.Gly814Ala
XM_011532665.1:c.2150G>C	XP_011530967.1:p.Gly717Ala
XM_011532666.1:c.2078G>C	XP_011530968.1:p.Gly693Ala
XM_011532667.1:c.1937G>C	XP_011530969.1:p.Gly646Ala
NM_001320893.1:c.2150G>C	NP_001307822.1:p.Gly717Ala
NR_135490.1:n.3143G>C
XM_005264175.5:c.2606G>C	XP_005264232.1:p.Gly869Ala
XM_005264177.4:c.1937G>C	XP_005264234.1:p.Gly646Ala
XM_011532662.2:c.2459G>C	XP_011530964.1:p.Gly820Ala
XM_011532663.2:c.2441G>C	XP_011530965.1:p.Gly814Ala
XM_011532666.2:c.2078G>C	XP_011530968.1:p.Gly693Ala
XM_011532667.3:c.1937G>C	XP_011530969.1:p.Gly646Ala
XM_017003526.1:c.2606G>C	XP_016859015.1:p.Gly869Ala
XM_017003527.1:c.1937G>C	XP_016859016.1:p.Gly646Ala
XR_001738657.1:n.2813G>C
NM_001375819.1:c.1937G>C	NP_001362748.1:p.Gly646Ala
NR_135490.2:n.3036G>C
NM_022552.5:c.2606G>C MANE Select	NP_072046.2:p.Gly869Ala