Canonical Allele Identifier: CA346068134

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 2503108
• ClinVar RCV Id: RCV003229793
• gnomAD v4: 2-25234352-A-C
• MyVariant Identifiers: chr2:g.25457221A>C (hg19) ; chr2:g.25234352A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234352A>C , CM000664.2:g.25234352A>C	GRCh38
NC_000002.11:g.25457221A>C , CM000664.1:g.25457221A>C	GRCh37
NC_000002.10:g.25310725A>C	NCBI36
NG_029465.2:g.113239T>G , LRG_459:g.113239T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.915T>G
ENST00000683393.1:c.1812T>G	ENSP00000508654.1:n.1812T>G
ENST00000683760.1:c.1997T>G	ENSP00000507765.1:p.Leu666Arg
ENST00000321117.10:c.2666T>G MANE Select	ENSP00000324375.5:p.Leu889Arg
ENST00000264709.7:c.2666T>G	ENSP00000264709.3:p.Leu889Arg
ENST00000321117.9:c.2666T>G	ENSP00000324375.5:p.Leu889Arg
ENST00000380746.8:c.2099T>G	ENSP00000370122.4:p.Leu700Arg
ENST00000380756.7:c.*519T>G	ENSP00000370132.3:n.*519T>G
ENST00000402667.1:c.1997T>G	ENSP00000384237.1:p.Leu666Arg
NM_022552.4:c.2666T>G , LRG_459t1:c.2666T>G	NP_072046.2:p.Leu889Arg
NM_153759.3:c.2099T>G , LRG_459t2:c.2099T>G	NP_715640.2:p.Leu700Arg
NM_175629.2:c.2666T>G , LRG_459t4:c.2666T>G	NP_783328.1:p.Leu889Arg
XM_005264175.3:c.2666T>G	XP_005264232.1:p.Leu889Arg
XM_005264177.3:c.1997T>G	XP_005264234.1:p.Leu666Arg
XM_006711958.2:c.2222T>G	XP_006712021.1:p.Leu741Arg
XM_011532662.1:c.2519T>G	XP_011530964.1:p.Leu840Arg
XM_011532663.1:c.2501T>G	XP_011530965.1:p.Leu834Arg
XM_011532665.1:c.2210T>G	XP_011530967.1:p.Leu737Arg
XM_011532666.1:c.2138T>G	XP_011530968.1:p.Leu713Arg
XM_011532667.1:c.1997T>G	XP_011530969.1:p.Leu666Arg
NM_001320893.1:c.2210T>G	NP_001307822.1:p.Leu737Arg
NR_135490.1:n.3203T>G
XM_005264175.5:c.2666T>G	XP_005264232.1:p.Leu889Arg
XM_005264177.4:c.1997T>G	XP_005264234.1:p.Leu666Arg
XM_011532662.2:c.2519T>G	XP_011530964.1:p.Leu840Arg
XM_011532663.2:c.2501T>G	XP_011530965.1:p.Leu834Arg
XM_011532666.2:c.2138T>G	XP_011530968.1:p.Leu713Arg
XM_011532667.3:c.1997T>G	XP_011530969.1:p.Leu666Arg
XM_017003526.1:c.2666T>G	XP_016859015.1:p.Leu889Arg
XM_017003527.1:c.1997T>G	XP_016859016.1:p.Leu666Arg
XR_001738657.1:n.2873T>G
NM_001375819.1:c.1997T>G	NP_001362748.1:p.Leu666Arg
NR_135490.2:n.3096T>G
NM_022552.5:c.2666T>G MANE Select	NP_072046.2:p.Leu889Arg