Canonical Allele Identifier: CA1555470

Gene: DNMT3A

Linked Data

• dbSNP Id: rs772849508
• ExAC: 2:25457188 T / TAA
• gnomAD v2: 2-25457188-T-TAA
• gnomAD v3: 2-25234319-T-TAA
• gnomAD v4: 2-25234319-T-TAA
• MyVariant Identifiers: chr2:g.25457188_25457189insAA (hg19) ; chr2:g.25234319_25234320insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234319_25234320insAA , CM000664.2:g.25234319_25234320insAA	GRCh38
NC_000002.11:g.25457188_25457189insAA , CM000664.1:g.25457188_25457189insAA	GRCh37
NC_000002.10:g.25310692_25310693insAA	NCBI36
NG_029465.2:g.113271_113272insTT , LRG_459:g.113271_113272insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.947_948insTT
ENST00000683393.1:c.1844_1845insTT	ENSP00000508654.1:n.1844_1845insTT
ENST00000683760.1:c.2029_2030insTT	ENSP00000507765.1:p.His677LeufsTer7
ENST00000321117.10:c.2698_2699insTT MANE Select	ENSP00000324375.5:p.His900LeufsTer7
ENST00000264709.7:c.2698_2699insTT	ENSP00000264709.3:p.His900LeufsTer7
ENST00000321117.9:c.2698_2699insTT	ENSP00000324375.5:p.His900LeufsTer7
ENST00000380746.8:c.2131_2132insTT	ENSP00000370122.4:p.His711LeufsTer7
ENST00000380756.7:c.*551_*552insTT	ENSP00000370132.3:n.*551_*552insTT
ENST00000402667.1:c.2029_2030insTT	ENSP00000384237.1:p.His677LeufsTer7
NM_022552.4:c.2698_2699insTT , LRG_459t1:c.2698_2699insTT	NP_072046.2:p.His900LeufsTer7
NM_153759.3:c.2131_2132insTT , LRG_459t2:c.2131_2132insTT	NP_715640.2:p.His711LeufsTer7
NM_175629.2:c.2698_2699insTT , LRG_459t4:c.2698_2699insTT	NP_783328.1:p.His900LeufsTer7
XM_005264175.3:c.2698_2699insTT	XP_005264232.1:p.His900LeufsTer7
XM_005264177.3:c.2029_2030insTT	XP_005264234.1:p.His677LeufsTer7
XM_006711958.2:c.2254_2255insTT	XP_006712021.1:p.His752LeufsTer7
XM_011532662.1:c.2551_2552insTT	XP_011530964.1:p.His851LeufsTer7
XM_011532663.1:c.2533_2534insTT	XP_011530965.1:p.His845LeufsTer7
XM_011532665.1:c.2242_2243insTT	XP_011530967.1:p.His748LeufsTer7
XM_011532666.1:c.2170_2171insTT	XP_011530968.1:p.His724LeufsTer7
XM_011532667.1:c.2029_2030insTT	XP_011530969.1:p.His677LeufsTer7
NM_001320893.1:c.2242_2243insTT	NP_001307822.1:p.His748LeufsTer7
NR_135490.1:n.3235_3236insTT
XM_005264175.5:c.2698_2699insTT	XP_005264232.1:p.His900LeufsTer7
XM_005264177.4:c.2029_2030insTT	XP_005264234.1:p.His677LeufsTer7
XM_011532662.2:c.2551_2552insTT	XP_011530964.1:p.His851LeufsTer7
XM_011532663.2:c.2533_2534insTT	XP_011530965.1:p.His845LeufsTer7
XM_011532666.2:c.2170_2171insTT	XP_011530968.1:p.His724LeufsTer7
XM_011532667.3:c.2029_2030insTT	XP_011530969.1:p.His677LeufsTer7
XM_017003526.1:c.2698_2699insTT	XP_016859015.1:p.His900LeufsTer7
XM_017003527.1:c.2029_2030insTT	XP_016859016.1:p.His677LeufsTer7
XR_001738657.1:n.2905_2906insTT
NM_001375819.1:c.2029_2030insTT	NP_001362748.1:p.His677LeufsTer7
NR_135490.2:n.3128_3129insTT
NM_022552.5:c.2698_2699insTT MANE Select	NP_072046.2:p.His900LeufsTer7