Canonical Allele Identifier: CA346068211

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 2498805
• ClinVar RCV Id: RCV003223014
• dbSNP Id: rs1673107556
• gnomAD v4: 2-25234389-C-T
• MyVariant Identifiers: chr2:g.25457258C>T (hg19) ; chr2:g.25234389C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234389C>T , CM000664.2:g.25234389C>T	GRCh38
NC_000002.11:g.25457258C>T , CM000664.1:g.25457258C>T	GRCh37
NC_000002.10:g.25310762C>T	NCBI36
NG_029465.2:g.113202G>A , LRG_459:g.113202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.878G>A
ENST00000683393.1:c.1775G>A	ENSP00000508654.1:n.1775G>A
ENST00000683760.1:c.1960G>A	ENSP00000507765.1:p.Val654Ile
ENST00000321117.10:c.2629G>A MANE Select	ENSP00000324375.5:p.Val877Ile
ENST00000264709.7:c.2629G>A	ENSP00000264709.3:p.Val877Ile
ENST00000321117.9:c.2629G>A	ENSP00000324375.5:p.Val877Ile
ENST00000380746.8:c.2062G>A	ENSP00000370122.4:p.Val688Ile
ENST00000380756.7:c.*482G>A	ENSP00000370132.3:n.*482G>A
ENST00000402667.1:c.1960G>A	ENSP00000384237.1:p.Val654Ile
NM_022552.4:c.2629G>A , LRG_459t1:c.2629G>A	NP_072046.2:p.Val877Ile
NM_153759.3:c.2062G>A , LRG_459t2:c.2062G>A	NP_715640.2:p.Val688Ile
NM_175629.2:c.2629G>A , LRG_459t4:c.2629G>A	NP_783328.1:p.Val877Ile
XM_005264175.3:c.2629G>A	XP_005264232.1:p.Val877Ile
XM_005264177.3:c.1960G>A	XP_005264234.1:p.Val654Ile
XM_006711958.2:c.2185G>A	XP_006712021.1:p.Val729Ile
XM_011532662.1:c.2482G>A	XP_011530964.1:p.Val828Ile
XM_011532663.1:c.2464G>A	XP_011530965.1:p.Val822Ile
XM_011532665.1:c.2173G>A	XP_011530967.1:p.Val725Ile
XM_011532666.1:c.2101G>A	XP_011530968.1:p.Val701Ile
XM_011532667.1:c.1960G>A	XP_011530969.1:p.Val654Ile
NM_001320893.1:c.2173G>A	NP_001307822.1:p.Val725Ile
NR_135490.1:n.3166G>A
XM_005264175.5:c.2629G>A	XP_005264232.1:p.Val877Ile
XM_005264177.4:c.1960G>A	XP_005264234.1:p.Val654Ile
XM_011532662.2:c.2482G>A	XP_011530964.1:p.Val828Ile
XM_011532663.2:c.2464G>A	XP_011530965.1:p.Val822Ile
XM_011532666.2:c.2101G>A	XP_011530968.1:p.Val701Ile
XM_011532667.3:c.1960G>A	XP_011530969.1:p.Val654Ile
XM_017003526.1:c.2629G>A	XP_016859015.1:p.Val877Ile
XM_017003527.1:c.1960G>A	XP_016859016.1:p.Val654Ile
XR_001738657.1:n.2836G>A
NM_001375819.1:c.1960G>A	NP_001362748.1:p.Val654Ile
NR_135490.2:n.3059G>A
NM_022552.5:c.2629G>A MANE Select	NP_072046.2:p.Val877Ile