Canonical Allele Identifier: CA346068112

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1330526945
• gnomAD v3: 2-25234339-C-T
• gnomAD v4: 2-25234339-C-T
• MyVariant Identifiers: chr2:g.25457208C>T (hg19) ; chr2:g.25234339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234339C>T , CM000664.2:g.25234339C>T	GRCh38
NC_000002.11:g.25457208C>T , CM000664.1:g.25457208C>T	GRCh37
NC_000002.10:g.25310712C>T	NCBI36
NG_029465.2:g.113252G>A , LRG_459:g.113252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.928G>A
ENST00000683393.1:c.1825G>A	ENSP00000508654.1:n.1825G>A
ENST00000683760.1:c.2010G>A	ENSP00000507765.1:p.Trp670Ter
ENST00000321117.10:c.2679G>A MANE Select	ENSP00000324375.5:p.Trp893Ter
ENST00000264709.7:c.2679G>A	ENSP00000264709.3:p.Trp893Ter
ENST00000321117.9:c.2679G>A	ENSP00000324375.5:p.Trp893Ter
ENST00000380746.8:c.2112G>A	ENSP00000370122.4:p.Trp704Ter
ENST00000380756.7:c.*532G>A	ENSP00000370132.3:n.*532G>A
ENST00000402667.1:c.2010G>A	ENSP00000384237.1:p.Trp670Ter
NM_022552.4:c.2679G>A , LRG_459t1:c.2679G>A	NP_072046.2:p.Trp893Ter
NM_153759.3:c.2112G>A , LRG_459t2:c.2112G>A	NP_715640.2:p.Trp704Ter
NM_175629.2:c.2679G>A , LRG_459t4:c.2679G>A	NP_783328.1:p.Trp893Ter
XM_005264175.3:c.2679G>A	XP_005264232.1:p.Trp893Ter
XM_005264177.3:c.2010G>A	XP_005264234.1:p.Trp670Ter
XM_006711958.2:c.2235G>A	XP_006712021.1:p.Trp745Ter
XM_011532662.1:c.2532G>A	XP_011530964.1:p.Trp844Ter
XM_011532663.1:c.2514G>A	XP_011530965.1:p.Trp838Ter
XM_011532665.1:c.2223G>A	XP_011530967.1:p.Trp741Ter
XM_011532666.1:c.2151G>A	XP_011530968.1:p.Trp717Ter
XM_011532667.1:c.2010G>A	XP_011530969.1:p.Trp670Ter
NM_001320893.1:c.2223G>A	NP_001307822.1:p.Trp741Ter
NR_135490.1:n.3216G>A
XM_005264175.5:c.2679G>A	XP_005264232.1:p.Trp893Ter
XM_005264177.4:c.2010G>A	XP_005264234.1:p.Trp670Ter
XM_011532662.2:c.2532G>A	XP_011530964.1:p.Trp844Ter
XM_011532663.2:c.2514G>A	XP_011530965.1:p.Trp838Ter
XM_011532666.2:c.2151G>A	XP_011530968.1:p.Trp717Ter
XM_011532667.3:c.2010G>A	XP_011530969.1:p.Trp670Ter
XM_017003526.1:c.2679G>A	XP_016859015.1:p.Trp893Ter
XM_017003527.1:c.2010G>A	XP_016859016.1:p.Trp670Ter
XR_001738657.1:n.2886G>A
NM_001375819.1:c.2010G>A	NP_001362748.1:p.Trp670Ter
NR_135490.2:n.3109G>A
NM_022552.5:c.2679G>A MANE Select	NP_072046.2:p.Trp893Ter