Canonical Allele Identifier: CA346068210

Gene: DNMT3A

Linked Data

• gnomAD v3: 2-25234389-C-A
• gnomAD v4: 2-25234389-C-A
• MyVariant Identifiers: chr2:g.25457258C>A (hg19) ; chr2:g.25234389C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.878G>T
ENST00000683393.1:c.1775G>T	ENSP00000508654.1:n.1775G>T
ENST00000683760.1:c.1960G>T	ENSP00000507765.1:p.Val654Phe
ENST00000321117.10:c.2629G>T MANE Select	ENSP00000324375.5:p.Val877Phe
ENST00000264709.7:c.2629G>T	ENSP00000264709.3:p.Val877Phe
ENST00000321117.9:c.2629G>T	ENSP00000324375.5:p.Val877Phe
ENST00000380746.8:c.2062G>T	ENSP00000370122.4:p.Val688Phe
ENST00000380756.7:c.*482G>T	ENSP00000370132.3:n.*482G>T
ENST00000402667.1:c.1960G>T	ENSP00000384237.1:p.Val654Phe
NM_022552.4:c.2629G>T , LRG_459t1:c.2629G>T	NP_072046.2:p.Val877Phe
NM_153759.3:c.2062G>T , LRG_459t2:c.2062G>T	NP_715640.2:p.Val688Phe
NM_175629.2:c.2629G>T , LRG_459t4:c.2629G>T	NP_783328.1:p.Val877Phe
XM_005264175.3:c.2629G>T	XP_005264232.1:p.Val877Phe
XM_005264177.3:c.1960G>T	XP_005264234.1:p.Val654Phe
XM_006711958.2:c.2185G>T	XP_006712021.1:p.Val729Phe
XM_011532662.1:c.2482G>T	XP_011530964.1:p.Val828Phe
XM_011532663.1:c.2464G>T	XP_011530965.1:p.Val822Phe
XM_011532665.1:c.2173G>T	XP_011530967.1:p.Val725Phe
XM_011532666.1:c.2101G>T	XP_011530968.1:p.Val701Phe
XM_011532667.1:c.1960G>T	XP_011530969.1:p.Val654Phe
NM_001320893.1:c.2173G>T	NP_001307822.1:p.Val725Phe
NR_135490.1:n.3166G>T
XM_005264175.5:c.2629G>T	XP_005264232.1:p.Val877Phe
XM_005264177.4:c.1960G>T	XP_005264234.1:p.Val654Phe
XM_011532662.2:c.2482G>T	XP_011530964.1:p.Val828Phe
XM_011532663.2:c.2464G>T	XP_011530965.1:p.Val822Phe
XM_011532666.2:c.2101G>T	XP_011530968.1:p.Val701Phe
XM_011532667.3:c.1960G>T	XP_011530969.1:p.Val654Phe
XM_017003526.1:c.2629G>T	XP_016859015.1:p.Val877Phe
XM_017003527.1:c.1960G>T	XP_016859016.1:p.Val654Phe
XR_001738657.1:n.2836G>T
NM_001375819.1:c.1960G>T	NP_001362748.1:p.Val654Phe
NR_135490.2:n.3059G>T
NM_022552.5:c.2629G>T MANE Select	NP_072046.2:p.Val877Phe