Canonical Allele Identifier: CA346069605

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240303-T-A
• COSMIC: COSM5878755 ; COSM5878756
• MyVariant Identifiers: chr2:g.25463172T>A (hg19) ; chr2:g.25240303T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240303T>A , CM000664.2:g.25240303T>A	GRCh38
NC_000002.11:g.25463172T>A , CM000664.1:g.25463172T>A	GRCh37
NC_000002.10:g.25316676T>A	NCBI36
NG_029465.2:g.107288A>T , LRG_459:g.107288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.640A>T
ENST00000683393.1:c.1467A>T	ENSP00000508654.1:n.1467A>T
ENST00000683760.1:c.1652A>T	ENSP00000507765.1:p.Glu551Val
ENST00000321117.10:c.2321A>T MANE Select	ENSP00000324375.5:p.Glu774Val
ENST00000264709.7:c.2321A>T	ENSP00000264709.3:p.Glu774Val
ENST00000321117.9:c.2321A>T	ENSP00000324375.5:p.Glu774Val
ENST00000380746.8:c.1754A>T	ENSP00000370122.4:p.Glu585Val
ENST00000380756.7:c.2321A>T	ENSP00000370132.3:p.Glu774Val
ENST00000402667.1:c.1652A>T	ENSP00000384237.1:p.Glu551Val
ENST00000461228.1:n.540A>T
ENST00000466601.5:n.693A>T
ENST00000474887.5:n.640A>T
ENST00000482935.5:n.321A>T
ENST00000491288.5:n.310+337A>T
NM_022552.4:c.2321A>T , LRG_459t1:c.2321A>T	NP_072046.2:p.Glu774Val
NM_153759.3:c.1754A>T , LRG_459t2:c.1754A>T	NP_715640.2:p.Glu585Val
NM_175629.2:c.2321A>T , LRG_459t4:c.2321A>T	NP_783328.1:p.Glu774Val
XM_005264175.3:c.2321A>T	XP_005264232.1:p.Glu774Val
XM_005264177.3:c.1652A>T	XP_005264234.1:p.Glu551Val
XM_006711957.2:c.2321A>T	XP_006712020.1:p.Glu774Val
XM_006711958.2:c.1877A>T	XP_006712021.1:p.Glu626Val
XM_011532662.1:c.2174A>T	XP_011530964.1:p.Glu725Val
XM_011532663.1:c.2156A>T	XP_011530965.1:p.Glu719Val
XM_011532664.1:c.2321A>T	XP_011530966.1:p.Glu774Val
XM_011532665.1:c.1865A>T	XP_011530967.1:p.Glu622Val
XM_011532666.1:c.1793A>T	XP_011530968.1:p.Glu598Val
XM_011532667.1:c.1652A>T	XP_011530969.1:p.Glu551Val
XM_011532668.1:c.2321A>T	XP_011530970.1:p.Glu774Val
NM_001320893.1:c.1865A>T	NP_001307822.1:p.Glu622Val
NR_135490.1:n.2659A>T
XM_005264175.5:c.2321A>T	XP_005264232.1:p.Glu774Val
XM_005264177.4:c.1652A>T	XP_005264234.1:p.Glu551Val
XM_011532662.2:c.2174A>T	XP_011530964.1:p.Glu725Val
XM_011532663.2:c.2156A>T	XP_011530965.1:p.Glu719Val
XM_011532664.2:c.2321A>T	XP_011530966.1:p.Glu774Val
XM_011532666.2:c.1793A>T	XP_011530968.1:p.Glu598Val
XM_011532667.3:c.1652A>T	XP_011530969.1:p.Glu551Val
XM_017003526.1:c.2321A>T	XP_016859015.1:p.Glu774Val
XM_017003527.1:c.1652A>T	XP_016859016.1:p.Glu551Val
XR_001738657.1:n.2598A>T
NM_001375819.1:c.1652A>T	NP_001362748.1:p.Glu551Val
NR_135490.2:n.2552A>T
NM_022552.5:c.2321A>T MANE Select	NP_072046.2:p.Glu774Val