Canonical Allele Identifier: CA346069674

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1673832847
• gnomAD v4: 2-25240320-G-T
• MyVariant Identifiers: chr2:g.25463189G>T (hg19) ; chr2:g.25240320G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240320G>T , CM000664.2:g.25240320G>T	GRCh38
NC_000002.11:g.25463189G>T , CM000664.1:g.25463189G>T	GRCh37
NC_000002.10:g.25316693G>T	NCBI36
NG_029465.2:g.107271C>A , LRG_459:g.107271C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.623C>A
ENST00000683393.1:c.1450C>A	ENSP00000508654.1:n.1450C>A
ENST00000683760.1:c.1635C>A	ENSP00000507765.1:p.Asp545Glu
ENST00000321117.10:c.2304C>A MANE Select	ENSP00000324375.5:p.Asp768Glu
ENST00000264709.7:c.2304C>A	ENSP00000264709.3:p.Asp768Glu
ENST00000321117.9:c.2304C>A	ENSP00000324375.5:p.Asp768Glu
ENST00000380746.8:c.1737C>A	ENSP00000370122.4:p.Asp579Glu
ENST00000380756.7:c.2304C>A	ENSP00000370132.3:p.Asp768Glu
ENST00000402667.1:c.1635C>A	ENSP00000384237.1:p.Asp545Glu
ENST00000461228.1:n.523C>A
ENST00000466601.5:n.676C>A
ENST00000474887.5:n.623C>A
ENST00000482935.5:n.304C>A
ENST00000491288.5:n.310+320C>A
NM_022552.4:c.2304C>A , LRG_459t1:c.2304C>A	NP_072046.2:p.Asp768Glu
NM_153759.3:c.1737C>A , LRG_459t2:c.1737C>A	NP_715640.2:p.Asp579Glu
NM_175629.2:c.2304C>A , LRG_459t4:c.2304C>A	NP_783328.1:p.Asp768Glu
XM_005264175.3:c.2304C>A	XP_005264232.1:p.Asp768Glu
XM_005264177.3:c.1635C>A	XP_005264234.1:p.Asp545Glu
XM_006711957.2:c.2304C>A	XP_006712020.1:p.Asp768Glu
XM_006711958.2:c.1860C>A	XP_006712021.1:p.Asp620Glu
XM_011532662.1:c.2157C>A	XP_011530964.1:p.Asp719Glu
XM_011532663.1:c.2139C>A	XP_011530965.1:p.Asp713Glu
XM_011532664.1:c.2304C>A	XP_011530966.1:p.Asp768Glu
XM_011532665.1:c.1848C>A	XP_011530967.1:p.Asp616Glu
XM_011532666.1:c.1776C>A	XP_011530968.1:p.Asp592Glu
XM_011532667.1:c.1635C>A	XP_011530969.1:p.Asp545Glu
XM_011532668.1:c.2304C>A	XP_011530970.1:p.Asp768Glu
NM_001320893.1:c.1848C>A	NP_001307822.1:p.Asp616Glu
NR_135490.1:n.2642C>A
XM_005264175.5:c.2304C>A	XP_005264232.1:p.Asp768Glu
XM_005264177.4:c.1635C>A	XP_005264234.1:p.Asp545Glu
XM_011532662.2:c.2157C>A	XP_011530964.1:p.Asp719Glu
XM_011532663.2:c.2139C>A	XP_011530965.1:p.Asp713Glu
XM_011532664.2:c.2304C>A	XP_011530966.1:p.Asp768Glu
XM_011532666.2:c.1776C>A	XP_011530968.1:p.Asp592Glu
XM_011532667.3:c.1635C>A	XP_011530969.1:p.Asp545Glu
XM_017003526.1:c.2304C>A	XP_016859015.1:p.Asp768Glu
XM_017003527.1:c.1635C>A	XP_016859016.1:p.Asp545Glu
XR_001738657.1:n.2581C>A
NM_001375819.1:c.1635C>A	NP_001362748.1:p.Asp545Glu
NR_135490.2:n.2535C>A
NM_022552.5:c.2304C>A MANE Select	NP_072046.2:p.Asp768Glu