Canonical Allele Identifier: CA1555493

Gene: DNMT3A

Linked Data

• dbSNP Id: rs774080362
• ExAC: 2:25457259 G / GT
• gnomAD v2: 2-25457259-G-GT
• gnomAD v4: 2-25234390-G-GT
• MyVariant Identifiers: chr2:g.25457259_25457260insT (hg19) ; chr2:g.25234390_25234391insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234391dup , CM000664.2:g.25234391dup	GRCh38
NC_000002.11:g.25457260dup , CM000664.1:g.25457260dup	GRCh37
NC_000002.10:g.25310764dup	NCBI36
NG_029465.2:g.113200dup , LRG_459:g.113200dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.876dup
ENST00000683393.1:c.1773dup	ENSP00000508654.1:n.1773dup
ENST00000683760.1:c.1958dup	ENSP00000507765.1:p.Asp653GlufsTer?
ENST00000321117.10:c.2627dup MANE Select	ENSP00000324375.5:p.Asp876GlufsTer?
ENST00000264709.7:c.2627dup	ENSP00000264709.3:p.Asp876GlufsTer?
ENST00000321117.9:c.2627dup	ENSP00000324375.5:p.Asp876GlufsTer?
ENST00000380746.8:c.2060dup	ENSP00000370122.4:p.Asp687GlufsTer?
ENST00000380756.7:c.*480dup	ENSP00000370132.3:n.*480dup
ENST00000402667.1:c.1958dup	ENSP00000384237.1:p.Asp653GlufsTer?
NM_022552.4:c.2627dup , LRG_459t1:c.2627dup	NP_072046.2:p.Asp876GlufsTer?
NM_153759.3:c.2060dup , LRG_459t2:c.2060dup	NP_715640.2:p.Asp687GlufsTer?
NM_175629.2:c.2627dup , LRG_459t4:c.2627dup	NP_783328.1:p.Asp876GlufsTer?
XM_005264175.3:c.2627dup	XP_005264232.1:p.Asp876GlufsTer?
XM_005264177.3:c.1958dup	XP_005264234.1:p.Asp653GlufsTer?
XM_006711958.2:c.2183dup	XP_006712021.1:p.Asp728GlufsTer?
XM_011532662.1:c.2480dup	XP_011530964.1:p.Asp827GlufsTer?
XM_011532663.1:c.2462dup	XP_011530965.1:p.Asp821GlufsTer?
XM_011532665.1:c.2171dup	XP_011530967.1:p.Asp724GlufsTer?
XM_011532666.1:c.2099dup	XP_011530968.1:p.Asp700GlufsTer?
XM_011532667.1:c.1958dup	XP_011530969.1:p.Asp653GlufsTer?
NM_001320893.1:c.2171dup	NP_001307822.1:p.Asp724GlufsTer?
NR_135490.1:n.3164dup
XM_005264175.5:c.2627dup	XP_005264232.1:p.Asp876GlufsTer?
XM_005264177.4:c.1958dup	XP_005264234.1:p.Asp653GlufsTer?
XM_011532662.2:c.2480dup	XP_011530964.1:p.Asp827GlufsTer?
XM_011532663.2:c.2462dup	XP_011530965.1:p.Asp821GlufsTer?
XM_011532666.2:c.2099dup	XP_011530968.1:p.Asp700GlufsTer?
XM_011532667.3:c.1958dup	XP_011530969.1:p.Asp653GlufsTer?
XM_017003526.1:c.2627dup	XP_016859015.1:p.Asp876GlufsTer?
XM_017003527.1:c.1958dup	XP_016859016.1:p.Asp653GlufsTer?
XR_001738657.1:n.2834dup
NM_001375819.1:c.1958dup	NP_001362748.1:p.Asp653GlufsTer?
NR_135490.2:n.3057dup
NM_022552.5:c.2627dup MANE Select	NP_072046.2:p.Asp876GlufsTer?