Canonical Allele Identifier: CA346068247

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1419990763
• gnomAD v2: 2-25457275-G-A
• gnomAD v4: 2-25234406-G-A
• COSMIC: COSM1583132
• MyVariant Identifiers: chr2:g.25457275G>A (hg19) ; chr2:g.25234406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234406G>A , CM000664.2:g.25234406G>A	GRCh38
NC_000002.11:g.25457275G>A , CM000664.1:g.25457275G>A	GRCh37
NC_000002.10:g.25310779G>A	NCBI36
NG_029465.2:g.113185C>T , LRG_459:g.113185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.861C>T
ENST00000683393.1:c.1758C>T	ENSP00000508654.1:n.1758C>T
ENST00000683760.1:c.1943C>T	ENSP00000507765.1:p.Pro648Leu
ENST00000321117.10:c.2612C>T MANE Select	ENSP00000324375.5:p.Pro871Leu
ENST00000264709.7:c.2612C>T	ENSP00000264709.3:p.Pro871Leu
ENST00000321117.9:c.2612C>T	ENSP00000324375.5:p.Pro871Leu
ENST00000380746.8:c.2045C>T	ENSP00000370122.4:p.Pro682Leu
ENST00000380756.7:c.*465C>T	ENSP00000370132.3:n.*465C>T
ENST00000402667.1:c.1943C>T	ENSP00000384237.1:p.Pro648Leu
NM_022552.4:c.2612C>T , LRG_459t1:c.2612C>T	NP_072046.2:p.Pro871Leu
NM_153759.3:c.2045C>T , LRG_459t2:c.2045C>T	NP_715640.2:p.Pro682Leu
NM_175629.2:c.2612C>T , LRG_459t4:c.2612C>T	NP_783328.1:p.Pro871Leu
XM_005264175.3:c.2612C>T	XP_005264232.1:p.Pro871Leu
XM_005264177.3:c.1943C>T	XP_005264234.1:p.Pro648Leu
XM_006711958.2:c.2168C>T	XP_006712021.1:p.Pro723Leu
XM_011532662.1:c.2465C>T	XP_011530964.1:p.Pro822Leu
XM_011532663.1:c.2447C>T	XP_011530965.1:p.Pro816Leu
XM_011532665.1:c.2156C>T	XP_011530967.1:p.Pro719Leu
XM_011532666.1:c.2084C>T	XP_011530968.1:p.Pro695Leu
XM_011532667.1:c.1943C>T	XP_011530969.1:p.Pro648Leu
NM_001320893.1:c.2156C>T	NP_001307822.1:p.Pro719Leu
NR_135490.1:n.3149C>T
XM_005264175.5:c.2612C>T	XP_005264232.1:p.Pro871Leu
XM_005264177.4:c.1943C>T	XP_005264234.1:p.Pro648Leu
XM_011532662.2:c.2465C>T	XP_011530964.1:p.Pro822Leu
XM_011532663.2:c.2447C>T	XP_011530965.1:p.Pro816Leu
XM_011532666.2:c.2084C>T	XP_011530968.1:p.Pro695Leu
XM_011532667.3:c.1943C>T	XP_011530969.1:p.Pro648Leu
XM_017003526.1:c.2612C>T	XP_016859015.1:p.Pro871Leu
XM_017003527.1:c.1943C>T	XP_016859016.1:p.Pro648Leu
XR_001738657.1:n.2819C>T
NM_001375819.1:c.1943C>T	NP_001362748.1:p.Pro648Leu
NR_135490.2:n.3042C>T
NM_022552.5:c.2612C>T MANE Select	NP_072046.2:p.Pro871Leu