Canonical Allele Identifier: CA346068240

Gene: DNMT3A

Linked Data

• COSMIC: COSM5985148 ; COSM5985149
• MyVariant Identifiers: chr2:g.25457270G>T (hg19) ; chr2:g.25234401G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234401G>T , CM000664.2:g.25234401G>T	GRCh38
NC_000002.11:g.25457270G>T , CM000664.1:g.25457270G>T	GRCh37
NC_000002.10:g.25310774G>T	NCBI36
NG_029465.2:g.113190C>A , LRG_459:g.113190C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.866C>A
ENST00000683393.1:c.1763C>A	ENSP00000508654.1:n.1763C>A
ENST00000683760.1:c.1948C>A	ENSP00000507765.1:p.His650Asn
ENST00000321117.10:c.2617C>A MANE Select	ENSP00000324375.5:p.His873Asn
ENST00000264709.7:c.2617C>A	ENSP00000264709.3:p.His873Asn
ENST00000321117.9:c.2617C>A	ENSP00000324375.5:p.His873Asn
ENST00000380746.8:c.2050C>A	ENSP00000370122.4:p.His684Asn
ENST00000380756.7:c.*470C>A	ENSP00000370132.3:n.*470C>A
ENST00000402667.1:c.1948C>A	ENSP00000384237.1:p.His650Asn
NM_022552.4:c.2617C>A , LRG_459t1:c.2617C>A	NP_072046.2:p.His873Asn
NM_153759.3:c.2050C>A , LRG_459t2:c.2050C>A	NP_715640.2:p.His684Asn
NM_175629.2:c.2617C>A , LRG_459t4:c.2617C>A	NP_783328.1:p.His873Asn
XM_005264175.3:c.2617C>A	XP_005264232.1:p.His873Asn
XM_005264177.3:c.1948C>A	XP_005264234.1:p.His650Asn
XM_006711958.2:c.2173C>A	XP_006712021.1:p.His725Asn
XM_011532662.1:c.2470C>A	XP_011530964.1:p.His824Asn
XM_011532663.1:c.2452C>A	XP_011530965.1:p.His818Asn
XM_011532665.1:c.2161C>A	XP_011530967.1:p.His721Asn
XM_011532666.1:c.2089C>A	XP_011530968.1:p.His697Asn
XM_011532667.1:c.1948C>A	XP_011530969.1:p.His650Asn
NM_001320893.1:c.2161C>A	NP_001307822.1:p.His721Asn
NR_135490.1:n.3154C>A
XM_005264175.5:c.2617C>A	XP_005264232.1:p.His873Asn
XM_005264177.4:c.1948C>A	XP_005264234.1:p.His650Asn
XM_011532662.2:c.2470C>A	XP_011530964.1:p.His824Asn
XM_011532663.2:c.2452C>A	XP_011530965.1:p.His818Asn
XM_011532666.2:c.2089C>A	XP_011530968.1:p.His697Asn
XM_011532667.3:c.1948C>A	XP_011530969.1:p.His650Asn
XM_017003526.1:c.2617C>A	XP_016859015.1:p.His873Asn
XM_017003527.1:c.1948C>A	XP_016859016.1:p.His650Asn
XR_001738657.1:n.2824C>A
NM_001375819.1:c.1948C>A	NP_001362748.1:p.His650Asn
NR_135490.2:n.3047C>A
NM_022552.5:c.2617C>A MANE Select	NP_072046.2:p.His873Asn