Canonical Allele Identifier: CA346071840

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25244248-G-C
• MyVariant Identifiers: chr2:g.25467117G>C (hg19) ; chr2:g.25244248G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244248G>C , CM000664.2:g.25244248G>C	GRCh38
NC_000002.11:g.25467117G>C , CM000664.1:g.25467117G>C	GRCh37
NC_000002.10:g.25320621G>C	NCBI36
NG_029465.2:g.103343C>G , LRG_459:g.103343C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.77C>G
ENST00000683393.1:c.904C>G	ENSP00000508654.1:n.904C>G
ENST00000683760.1:c.1089C>G	ENSP00000507765.1:p.Cys363Trp
ENST00000321117.10:c.1758C>G MANE Select	ENSP00000324375.5:p.Cys586Trp
ENST00000264709.7:c.1758C>G	ENSP00000264709.3:p.Cys586Trp
ENST00000321117.9:c.1758C>G	ENSP00000324375.5:p.Cys586Trp
ENST00000380746.8:c.1191C>G	ENSP00000370122.4:p.Cys397Trp
ENST00000380756.7:c.1758C>G	ENSP00000370132.3:p.Cys586Trp
ENST00000402667.1:c.1089C>G	ENSP00000384237.1:p.Cys363Trp
ENST00000474887.5:n.77C>G
NM_022552.4:c.1758C>G , LRG_459t1:c.1758C>G	NP_072046.2:p.Cys586Trp
NM_153759.3:c.1191C>G , LRG_459t2:c.1191C>G	NP_715640.2:p.Cys397Trp
NM_175629.2:c.1758C>G , LRG_459t4:c.1758C>G	NP_783328.1:p.Cys586Trp
XM_005264175.3:c.1758C>G	XP_005264232.1:p.Cys586Trp
XM_005264177.3:c.1089C>G	XP_005264234.1:p.Cys363Trp
XM_006711957.2:c.1758C>G	XP_006712020.1:p.Cys586Trp
XM_006711958.2:c.1314C>G	XP_006712021.1:p.Cys438Trp
XM_011532662.1:c.1611C>G	XP_011530964.1:p.Cys537Trp
XM_011532663.1:c.1593C>G	XP_011530965.1:p.Cys531Trp
XM_011532664.1:c.1758C>G	XP_011530966.1:p.Cys586Trp
XM_011532665.1:c.1302C>G	XP_011530967.1:p.Cys434Trp
XM_011532666.1:c.1230C>G	XP_011530968.1:p.Cys410Trp
XM_011532667.1:c.1089C>G	XP_011530969.1:p.Cys363Trp
XM_011532668.1:c.1758C>G	XP_011530970.1:p.Cys586Trp
NM_001320893.1:c.1302C>G	NP_001307822.1:p.Cys434Trp
NR_135490.1:n.2096C>G
XM_005264175.5:c.1758C>G	XP_005264232.1:p.Cys586Trp
XM_005264177.4:c.1089C>G	XP_005264234.1:p.Cys363Trp
XM_011532662.2:c.1611C>G	XP_011530964.1:p.Cys537Trp
XM_011532663.2:c.1593C>G	XP_011530965.1:p.Cys531Trp
XM_011532664.2:c.1758C>G	XP_011530966.1:p.Cys586Trp
XM_011532666.2:c.1230C>G	XP_011530968.1:p.Cys410Trp
XM_011532667.3:c.1089C>G	XP_011530969.1:p.Cys363Trp
XM_017003526.1:c.1758C>G	XP_016859015.1:p.Cys586Trp
XM_017003527.1:c.1089C>G	XP_016859016.1:p.Cys363Trp
XR_001738657.1:n.2035C>G
NM_001375819.1:c.1089C>G	NP_001362748.1:p.Cys363Trp
NR_135490.2:n.1989C>G
NM_022552.5:c.1758C>G MANE Select	NP_072046.2:p.Cys586Trp