Canonical Allele Identifier: CA346068094

Gene: DNMT3A

Linked Data

• dbSNP Id: rs2149252654
• gnomAD v4: 2-25234331-G-A
• COSMIC: COSM94141 ; COSM5878741
• MyVariant Identifiers: chr2:g.25457200G>A (hg19) ; chr2:g.25234331G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234331G>A , CM000664.2:g.25234331G>A	GRCh38
NC_000002.11:g.25457200G>A , CM000664.1:g.25457200G>A	GRCh37
NC_000002.10:g.25310704G>A	NCBI36
NG_029465.2:g.113260C>T , LRG_459:g.113260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.936C>T
ENST00000683393.1:c.1833C>T	ENSP00000508654.1:n.1833C>T
ENST00000683760.1:c.2018C>T	ENSP00000507765.1:p.Pro673Leu
ENST00000321117.10:c.2687C>T MANE Select	ENSP00000324375.5:p.Pro896Leu
ENST00000264709.7:c.2687C>T	ENSP00000264709.3:p.Pro896Leu
ENST00000321117.9:c.2687C>T	ENSP00000324375.5:p.Pro896Leu
ENST00000380746.8:c.2120C>T	ENSP00000370122.4:p.Pro707Leu
ENST00000380756.7:c.*540C>T	ENSP00000370132.3:n.*540C>T
ENST00000402667.1:c.2018C>T	ENSP00000384237.1:p.Pro673Leu
NM_022552.4:c.2687C>T , LRG_459t1:c.2687C>T	NP_072046.2:p.Pro896Leu
NM_153759.3:c.2120C>T , LRG_459t2:c.2120C>T	NP_715640.2:p.Pro707Leu
NM_175629.2:c.2687C>T , LRG_459t4:c.2687C>T	NP_783328.1:p.Pro896Leu
XM_005264175.3:c.2687C>T	XP_005264232.1:p.Pro896Leu
XM_005264177.3:c.2018C>T	XP_005264234.1:p.Pro673Leu
XM_006711958.2:c.2243C>T	XP_006712021.1:p.Pro748Leu
XM_011532662.1:c.2540C>T	XP_011530964.1:p.Pro847Leu
XM_011532663.1:c.2522C>T	XP_011530965.1:p.Pro841Leu
XM_011532665.1:c.2231C>T	XP_011530967.1:p.Pro744Leu
XM_011532666.1:c.2159C>T	XP_011530968.1:p.Pro720Leu
XM_011532667.1:c.2018C>T	XP_011530969.1:p.Pro673Leu
NM_001320893.1:c.2231C>T	NP_001307822.1:p.Pro744Leu
NR_135490.1:n.3224C>T
XM_005264175.5:c.2687C>T	XP_005264232.1:p.Pro896Leu
XM_005264177.4:c.2018C>T	XP_005264234.1:p.Pro673Leu
XM_011532662.2:c.2540C>T	XP_011530964.1:p.Pro847Leu
XM_011532663.2:c.2522C>T	XP_011530965.1:p.Pro841Leu
XM_011532666.2:c.2159C>T	XP_011530968.1:p.Pro720Leu
XM_011532667.3:c.2018C>T	XP_011530969.1:p.Pro673Leu
XM_017003526.1:c.2687C>T	XP_016859015.1:p.Pro896Leu
XM_017003527.1:c.2018C>T	XP_016859016.1:p.Pro673Leu
XR_001738657.1:n.2894C>T
NM_001375819.1:c.2018C>T	NP_001362748.1:p.Pro673Leu
NR_135490.2:n.3117C>T
NM_022552.5:c.2687C>T MANE Select	NP_072046.2:p.Pro896Leu