Canonical Allele Identifier: CA43703328

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 2168522
• ClinVar RCV Id: RCV003082609
• dbSNP Id: rs758063797
• gnomAD v2: 2-25467099-G-A
• gnomAD v4: 2-25244230-G-A
• COSMIC: COSM5572758 ; COSM5572759
• MyVariant Identifiers: chr2:g.25467099G>A (hg19) ; chr2:g.25244230G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244230G>A , CM000664.2:g.25244230G>A	GRCh38
NC_000002.11:g.25467099G>A , CM000664.1:g.25467099G>A	GRCh37
NC_000002.10:g.25320603G>A	NCBI36
NG_029465.2:g.103361C>T , LRG_459:g.103361C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.95C>T
ENST00000683393.1:c.922C>T	ENSP00000508654.1:n.922C>T
ENST00000683760.1:c.1107C>T	ENSP00000507765.1:p.Tyr369=
ENST00000321117.10:c.1776C>T MANE Select	ENSP00000324375.5:p.Tyr592=
ENST00000264709.7:c.1776C>T	ENSP00000264709.3:p.Tyr592=
ENST00000321117.9:c.1776C>T	ENSP00000324375.5:p.Tyr592=
ENST00000380746.8:c.1209C>T	ENSP00000370122.4:p.Tyr403=
ENST00000380756.7:c.1776C>T	ENSP00000370132.3:p.Tyr592=
ENST00000402667.1:c.1107C>T	ENSP00000384237.1:p.Tyr369=
ENST00000474887.5:n.95C>T
NM_022552.4:c.1776C>T , LRG_459t1:c.1776C>T	NP_072046.2:p.Tyr592=
NM_153759.3:c.1209C>T , LRG_459t2:c.1209C>T	NP_715640.2:p.Tyr403=
NM_175629.2:c.1776C>T , LRG_459t4:c.1776C>T	NP_783328.1:p.Tyr592=
XM_005264175.3:c.1776C>T	XP_005264232.1:p.Tyr592=
XM_005264177.3:c.1107C>T	XP_005264234.1:p.Tyr369=
XM_006711957.2:c.1776C>T	XP_006712020.1:p.Tyr592=
XM_006711958.2:c.1332C>T	XP_006712021.1:p.Tyr444=
XM_011532662.1:c.1629C>T	XP_011530964.1:p.Tyr543=
XM_011532663.1:c.1611C>T	XP_011530965.1:p.Tyr537=
XM_011532664.1:c.1776C>T	XP_011530966.1:p.Tyr592=
XM_011532665.1:c.1320C>T	XP_011530967.1:p.Tyr440=
XM_011532666.1:c.1248C>T	XP_011530968.1:p.Tyr416=
XM_011532667.1:c.1107C>T	XP_011530969.1:p.Tyr369=
XM_011532668.1:c.1776C>T	XP_011530970.1:p.Tyr592=
NM_001320893.1:c.1320C>T	NP_001307822.1:p.Tyr440=
NR_135490.1:n.2114C>T
XM_005264175.5:c.1776C>T	XP_005264232.1:p.Tyr592=
XM_005264177.4:c.1107C>T	XP_005264234.1:p.Tyr369=
XM_011532662.2:c.1629C>T	XP_011530964.1:p.Tyr543=
XM_011532663.2:c.1611C>T	XP_011530965.1:p.Tyr537=
XM_011532664.2:c.1776C>T	XP_011530966.1:p.Tyr592=
XM_011532666.2:c.1248C>T	XP_011530968.1:p.Tyr416=
XM_011532667.3:c.1107C>T	XP_011530969.1:p.Tyr369=
XM_017003526.1:c.1776C>T	XP_016859015.1:p.Tyr592=
XM_017003527.1:c.1107C>T	XP_016859016.1:p.Tyr369=
XR_001738657.1:n.2053C>T
NM_001375819.1:c.1107C>T	NP_001362748.1:p.Tyr369=
NR_135490.2:n.2007C>T
NM_022552.5:c.1776C>T MANE Select	NP_072046.2:p.Tyr592=