Canonical Allele Identifier: CA1555456

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 2113930
• ClinVar RCV Id: RCV003029789
• dbSNP Id: rs758985118
• ExAC: 2:25457157 C / T
• gnomAD v2: 2-25457157-C-T
• gnomAD v4: 2-25234288-C-T
• COSMIC: COSM5636904 ; COSM5636905
• MyVariant Identifiers: chr2:g.25457157C>T (hg19) ; chr2:g.25457157_25457158delinsTG (hg19) ; chr2:g.25234288C>T (hg38) ; chr2:g.25234288_25234289delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234288C>T , CM000664.2:g.25234288C>T	GRCh38
NC_000002.11:g.25457157C>T , CM000664.1:g.25457157C>T	GRCh37
NC_000002.10:g.25310661C>T	NCBI36
NG_029465.2:g.113303G>A , LRG_459:g.113303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.979G>A
ENST00000683393.1:c.1876G>A	ENSP00000508654.1:n.1876G>A
ENST00000683760.1:c.2061G>A	ENSP00000507765.1:p.Ala687=
ENST00000321117.10:c.2730G>A MANE Select	ENSP00000324375.5:p.Ala910=
ENST00000264709.7:c.2730G>A	ENSP00000264709.3:p.Ala910=
ENST00000321117.9:c.2730G>A	ENSP00000324375.5:p.Ala910=
ENST00000380746.8:c.2163G>A	ENSP00000370122.4:p.Ala721=
ENST00000380756.7:c.*583G>A	ENSP00000370132.3:n.*583G>A
ENST00000402667.1:c.2061G>A	ENSP00000384237.1:p.Ala687=
NM_022552.4:c.2730G>A , LRG_459t1:c.2730G>A	NP_072046.2:p.Ala910=
NM_153759.3:c.2163G>A , LRG_459t2:c.2163G>A	NP_715640.2:p.Ala721=
NM_175629.2:c.2730G>A , LRG_459t4:c.2730G>A	NP_783328.1:p.Ala910=
XM_005264175.3:c.2730G>A	XP_005264232.1:p.Ala910=
XM_005264177.3:c.2061G>A	XP_005264234.1:p.Ala687=
XM_006711958.2:c.2286G>A	XP_006712021.1:p.Ala762=
XM_011532662.1:c.2583G>A	XP_011530964.1:p.Ala861=
XM_011532663.1:c.2565G>A	XP_011530965.1:p.Ala855=
XM_011532665.1:c.2274G>A	XP_011530967.1:p.Ala758=
XM_011532666.1:c.2202G>A	XP_011530968.1:p.Ala734=
XM_011532667.1:c.2061G>A	XP_011530969.1:p.Ala687=
NM_001320893.1:c.2274G>A	NP_001307822.1:p.Ala758=
NR_135490.1:n.3267G>A
XM_005264175.5:c.2730G>A	XP_005264232.1:p.Ala910=
XM_005264177.4:c.2061G>A	XP_005264234.1:p.Ala687=
XM_011532662.2:c.2583G>A	XP_011530964.1:p.Ala861=
XM_011532663.2:c.2565G>A	XP_011530965.1:p.Ala855=
XM_011532666.2:c.2202G>A	XP_011530968.1:p.Ala734=
XM_011532667.3:c.2061G>A	XP_011530969.1:p.Ala687=
XM_017003526.1:c.2730G>A	XP_016859015.1:p.Ala910=
XM_017003527.1:c.2061G>A	XP_016859016.1:p.Ala687=
XR_001738657.1:n.2937G>A
NM_001375819.1:c.2061G>A	NP_001362748.1:p.Ala687=
NR_135490.2:n.3160G>A
NM_022552.5:c.2730G>A MANE Select	NP_072046.2:p.Ala910=