Canonical Allele Identifier: CA346071800

Gene: DNMT3A

Linked Data

• dbSNP Id: rs758063797
• gnomAD v2: 2-25467099-G-C
• gnomAD v4: 2-25244230-G-C
• COSMIC: COSM231573
• MyVariant Identifiers: chr2:g.25467099G>C (hg19) ; chr2:g.25244230G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.95C>G
ENST00000683393.1:c.922C>G	ENSP00000508654.1:n.922C>G
ENST00000683760.1:c.1107C>G	ENSP00000507765.1:p.Tyr369Ter
ENST00000321117.10:c.1776C>G MANE Select	ENSP00000324375.5:p.Tyr592Ter
ENST00000264709.7:c.1776C>G	ENSP00000264709.3:p.Tyr592Ter
ENST00000321117.9:c.1776C>G	ENSP00000324375.5:p.Tyr592Ter
ENST00000380746.8:c.1209C>G	ENSP00000370122.4:p.Tyr403Ter
ENST00000380756.7:c.1776C>G	ENSP00000370132.3:p.Tyr592Ter
ENST00000402667.1:c.1107C>G	ENSP00000384237.1:p.Tyr369Ter
ENST00000474887.5:n.95C>G
NM_022552.4:c.1776C>G , LRG_459t1:c.1776C>G	NP_072046.2:p.Tyr592Ter
NM_153759.3:c.1209C>G , LRG_459t2:c.1209C>G	NP_715640.2:p.Tyr403Ter
NM_175629.2:c.1776C>G , LRG_459t4:c.1776C>G	NP_783328.1:p.Tyr592Ter
XM_005264175.3:c.1776C>G	XP_005264232.1:p.Tyr592Ter
XM_005264177.3:c.1107C>G	XP_005264234.1:p.Tyr369Ter
XM_006711957.2:c.1776C>G	XP_006712020.1:p.Tyr592Ter
XM_006711958.2:c.1332C>G	XP_006712021.1:p.Tyr444Ter
XM_011532662.1:c.1629C>G	XP_011530964.1:p.Tyr543Ter
XM_011532663.1:c.1611C>G	XP_011530965.1:p.Tyr537Ter
XM_011532664.1:c.1776C>G	XP_011530966.1:p.Tyr592Ter
XM_011532665.1:c.1320C>G	XP_011530967.1:p.Tyr440Ter
XM_011532666.1:c.1248C>G	XP_011530968.1:p.Tyr416Ter
XM_011532667.1:c.1107C>G	XP_011530969.1:p.Tyr369Ter
XM_011532668.1:c.1776C>G	XP_011530970.1:p.Tyr592Ter
NM_001320893.1:c.1320C>G	NP_001307822.1:p.Tyr440Ter
NR_135490.1:n.2114C>G
XM_005264175.5:c.1776C>G	XP_005264232.1:p.Tyr592Ter
XM_005264177.4:c.1107C>G	XP_005264234.1:p.Tyr369Ter
XM_011532662.2:c.1629C>G	XP_011530964.1:p.Tyr543Ter
XM_011532663.2:c.1611C>G	XP_011530965.1:p.Tyr537Ter
XM_011532664.2:c.1776C>G	XP_011530966.1:p.Tyr592Ter
XM_011532666.2:c.1248C>G	XP_011530968.1:p.Tyr416Ter
XM_011532667.3:c.1107C>G	XP_011530969.1:p.Tyr369Ter
XM_017003526.1:c.1776C>G	XP_016859015.1:p.Tyr592Ter
XM_017003527.1:c.1107C>G	XP_016859016.1:p.Tyr369Ter
XR_001738657.1:n.2053C>G
NM_001375819.1:c.1107C>G	NP_001362748.1:p.Tyr369Ter
NR_135490.2:n.2007C>G
NM_022552.5:c.1776C>G MANE Select	NP_072046.2:p.Tyr592Ter