Canonical Allele Identifier: CA346069996

Gene: DNMT3A

Linked Data

• MyVariant Identifiers: chr2:g.25463249A>C (hg19) ; chr2:g.25240380A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240380A>C , CM000664.2:g.25240380A>C	GRCh38
NC_000002.11:g.25463249A>C , CM000664.1:g.25463249A>C	GRCh37
NC_000002.10:g.25316753A>C	NCBI36
NG_029465.2:g.107211T>G , LRG_459:g.107211T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.563T>G
ENST00000683393.1:c.1390T>G	ENSP00000508654.1:n.1390T>G
ENST00000683760.1:c.1575T>G	ENSP00000507765.1:p.Asp525Glu
ENST00000321117.10:c.2244T>G MANE Select	ENSP00000324375.5:p.Asp748Glu
ENST00000264709.7:c.2244T>G	ENSP00000264709.3:p.Asp748Glu
ENST00000321117.9:c.2244T>G	ENSP00000324375.5:p.Asp748Glu
ENST00000380746.8:c.1677T>G	ENSP00000370122.4:p.Asp559Glu
ENST00000380756.7:c.2244T>G	ENSP00000370132.3:p.Asp748Glu
ENST00000402667.1:c.1575T>G	ENSP00000384237.1:p.Asp525Glu
ENST00000461228.1:n.463T>G
ENST00000466601.5:n.616T>G
ENST00000474887.5:n.563T>G
ENST00000482935.5:n.244T>G
ENST00000491288.5:n.310+260T>G
NM_022552.4:c.2244T>G , LRG_459t1:c.2244T>G	NP_072046.2:p.Asp748Glu
NM_153759.3:c.1677T>G , LRG_459t2:c.1677T>G	NP_715640.2:p.Asp559Glu
NM_175629.2:c.2244T>G , LRG_459t4:c.2244T>G	NP_783328.1:p.Asp748Glu
XM_005264175.3:c.2244T>G	XP_005264232.1:p.Asp748Glu
XM_005264177.3:c.1575T>G	XP_005264234.1:p.Asp525Glu
XM_006711957.2:c.2244T>G	XP_006712020.1:p.Asp748Glu
XM_006711958.2:c.1800T>G	XP_006712021.1:p.Asp600Glu
XM_011532662.1:c.2097T>G	XP_011530964.1:p.Asp699Glu
XM_011532663.1:c.2079T>G	XP_011530965.1:p.Asp693Glu
XM_011532664.1:c.2244T>G	XP_011530966.1:p.Asp748Glu
XM_011532665.1:c.1788T>G	XP_011530967.1:p.Asp596Glu
XM_011532666.1:c.1716T>G	XP_011530968.1:p.Asp572Glu
XM_011532667.1:c.1575T>G	XP_011530969.1:p.Asp525Glu
XM_011532668.1:c.2244T>G	XP_011530970.1:p.Asp748Glu
NM_001320893.1:c.1788T>G	NP_001307822.1:p.Asp596Glu
NR_135490.1:n.2582T>G
XM_005264175.5:c.2244T>G	XP_005264232.1:p.Asp748Glu
XM_005264177.4:c.1575T>G	XP_005264234.1:p.Asp525Glu
XM_011532662.2:c.2097T>G	XP_011530964.1:p.Asp699Glu
XM_011532663.2:c.2079T>G	XP_011530965.1:p.Asp693Glu
XM_011532664.2:c.2244T>G	XP_011530966.1:p.Asp748Glu
XM_011532666.2:c.1716T>G	XP_011530968.1:p.Asp572Glu
XM_011532667.3:c.1575T>G	XP_011530969.1:p.Asp525Glu
XM_017003526.1:c.2244T>G	XP_016859015.1:p.Asp748Glu
XM_017003527.1:c.1575T>G	XP_016859016.1:p.Asp525Glu
XR_001738657.1:n.2521T>G
NM_001375819.1:c.1575T>G	NP_001362748.1:p.Asp525Glu
NR_135490.2:n.2475T>G
NM_022552.5:c.2244T>G MANE Select	NP_072046.2:p.Asp748Glu