Canonical Allele Identifier: CA346071802

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1188559240
• gnomAD v2: 2-25467100-T-C
• gnomAD v4: 2-25244231-T-C
• MyVariant Identifiers: chr2:g.25467100T>C (hg19) ; chr2:g.25244231T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244231T>C , CM000664.2:g.25244231T>C	GRCh38
NC_000002.11:g.25467100T>C , CM000664.1:g.25467100T>C	GRCh37
NC_000002.10:g.25320604T>C	NCBI36
NG_029465.2:g.103360A>G , LRG_459:g.103360A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.94A>G
ENST00000683393.1:c.921A>G	ENSP00000508654.1:n.921A>G
ENST00000683760.1:c.1106A>G	ENSP00000507765.1:p.Tyr369Cys
ENST00000321117.10:c.1775A>G MANE Select	ENSP00000324375.5:p.Tyr592Cys
ENST00000264709.7:c.1775A>G	ENSP00000264709.3:p.Tyr592Cys
ENST00000321117.9:c.1775A>G	ENSP00000324375.5:p.Tyr592Cys
ENST00000380746.8:c.1208A>G	ENSP00000370122.4:p.Tyr403Cys
ENST00000380756.7:c.1775A>G	ENSP00000370132.3:p.Tyr592Cys
ENST00000402667.1:c.1106A>G	ENSP00000384237.1:p.Tyr369Cys
ENST00000474887.5:n.94A>G
NM_022552.4:c.1775A>G , LRG_459t1:c.1775A>G	NP_072046.2:p.Tyr592Cys
NM_153759.3:c.1208A>G , LRG_459t2:c.1208A>G	NP_715640.2:p.Tyr403Cys
NM_175629.2:c.1775A>G , LRG_459t4:c.1775A>G	NP_783328.1:p.Tyr592Cys
XM_005264175.3:c.1775A>G	XP_005264232.1:p.Tyr592Cys
XM_005264177.3:c.1106A>G	XP_005264234.1:p.Tyr369Cys
XM_006711957.2:c.1775A>G	XP_006712020.1:p.Tyr592Cys
XM_006711958.2:c.1331A>G	XP_006712021.1:p.Tyr444Cys
XM_011532662.1:c.1628A>G	XP_011530964.1:p.Tyr543Cys
XM_011532663.1:c.1610A>G	XP_011530965.1:p.Tyr537Cys
XM_011532664.1:c.1775A>G	XP_011530966.1:p.Tyr592Cys
XM_011532665.1:c.1319A>G	XP_011530967.1:p.Tyr440Cys
XM_011532666.1:c.1247A>G	XP_011530968.1:p.Tyr416Cys
XM_011532667.1:c.1106A>G	XP_011530969.1:p.Tyr369Cys
XM_011532668.1:c.1775A>G	XP_011530970.1:p.Tyr592Cys
NM_001320893.1:c.1319A>G	NP_001307822.1:p.Tyr440Cys
NR_135490.1:n.2113A>G
XM_005264175.5:c.1775A>G	XP_005264232.1:p.Tyr592Cys
XM_005264177.4:c.1106A>G	XP_005264234.1:p.Tyr369Cys
XM_011532662.2:c.1628A>G	XP_011530964.1:p.Tyr543Cys
XM_011532663.2:c.1610A>G	XP_011530965.1:p.Tyr537Cys
XM_011532664.2:c.1775A>G	XP_011530966.1:p.Tyr592Cys
XM_011532666.2:c.1247A>G	XP_011530968.1:p.Tyr416Cys
XM_011532667.3:c.1106A>G	XP_011530969.1:p.Tyr369Cys
XM_017003526.1:c.1775A>G	XP_016859015.1:p.Tyr592Cys
XM_017003527.1:c.1106A>G	XP_016859016.1:p.Tyr369Cys
XR_001738657.1:n.2052A>G
NM_001375819.1:c.1106A>G	NP_001362748.1:p.Tyr369Cys
NR_135490.2:n.2006A>G
NM_022552.5:c.1775A>G MANE Select	NP_072046.2:p.Tyr592Cys