Canonical Allele Identifier: CA346068187

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1573292010
• gnomAD v3: 2-25234378-C-T
• gnomAD v4: 2-25234378-C-T
• COSMIC: COSM3798871 ; COSM3798872
• MyVariant Identifiers: chr2:g.25457247C>T (hg19) ; chr2:g.25234378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234378C>T , CM000664.2:g.25234378C>T	GRCh38
NC_000002.11:g.25457247C>T , CM000664.1:g.25457247C>T	GRCh37
NC_000002.10:g.25310751C>T	NCBI36
NG_029465.2:g.113213G>A , LRG_459:g.113213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.889G>A
ENST00000683393.1:c.1786G>A	ENSP00000508654.1:n.1786G>A
ENST00000683760.1:c.1971G>A	ENSP00000507765.1:p.Met657Ile
ENST00000321117.10:c.2640G>A MANE Select	ENSP00000324375.5:p.Met880Ile
ENST00000264709.7:c.2640G>A	ENSP00000264709.3:p.Met880Ile
ENST00000321117.9:c.2640G>A	ENSP00000324375.5:p.Met880Ile
ENST00000380746.8:c.2073G>A	ENSP00000370122.4:p.Met691Ile
ENST00000380756.7:c.*493G>A	ENSP00000370132.3:n.*493G>A
ENST00000402667.1:c.1971G>A	ENSP00000384237.1:p.Met657Ile
NM_022552.4:c.2640G>A , LRG_459t1:c.2640G>A	NP_072046.2:p.Met880Ile
NM_153759.3:c.2073G>A , LRG_459t2:c.2073G>A	NP_715640.2:p.Met691Ile
NM_175629.2:c.2640G>A , LRG_459t4:c.2640G>A	NP_783328.1:p.Met880Ile
XM_005264175.3:c.2640G>A	XP_005264232.1:p.Met880Ile
XM_005264177.3:c.1971G>A	XP_005264234.1:p.Met657Ile
XM_006711958.2:c.2196G>A	XP_006712021.1:p.Met732Ile
XM_011532662.1:c.2493G>A	XP_011530964.1:p.Met831Ile
XM_011532663.1:c.2475G>A	XP_011530965.1:p.Met825Ile
XM_011532665.1:c.2184G>A	XP_011530967.1:p.Met728Ile
XM_011532666.1:c.2112G>A	XP_011530968.1:p.Met704Ile
XM_011532667.1:c.1971G>A	XP_011530969.1:p.Met657Ile
NM_001320893.1:c.2184G>A	NP_001307822.1:p.Met728Ile
NR_135490.1:n.3177G>A
XM_005264175.5:c.2640G>A	XP_005264232.1:p.Met880Ile
XM_005264177.4:c.1971G>A	XP_005264234.1:p.Met657Ile
XM_011532662.2:c.2493G>A	XP_011530964.1:p.Met831Ile
XM_011532663.2:c.2475G>A	XP_011530965.1:p.Met825Ile
XM_011532666.2:c.2112G>A	XP_011530968.1:p.Met704Ile
XM_011532667.3:c.1971G>A	XP_011530969.1:p.Met657Ile
XM_017003526.1:c.2640G>A	XP_016859015.1:p.Met880Ile
XM_017003527.1:c.1971G>A	XP_016859016.1:p.Met657Ile
XR_001738657.1:n.2847G>A
NM_001375819.1:c.1971G>A	NP_001362748.1:p.Met657Ile
NR_135490.2:n.3070G>A
NM_022552.5:c.2640G>A MANE Select	NP_072046.2:p.Met880Ile