Canonical Allele Identifier: CA425180833

Gene: DNMT3A

Linked Data

• gnomAD v3: 2-25234303-C-G
• gnomAD v4: 2-25234303-C-G
• MyVariant Identifiers: chr2:g.25457172C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234303C>G , CM000664.2:g.25234303C>G	GRCh38
NC_000002.11:g.25457172C>G , CM000664.1:g.25457172C>G	GRCh37
NC_000002.10:g.25310676C>G	NCBI36
NG_029465.2:g.113288G>C , LRG_459:g.113288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.964G>C
ENST00000683393.1:c.1861G>C	ENSP00000508654.1:n.1861G>C
ENST00000683760.1:c.2046G>C	ENSP00000507765.1:p.Leu682=
ENST00000321117.10:c.2715G>C MANE Select	ENSP00000324375.5:p.Leu905=
ENST00000264709.7:c.2715G>C	ENSP00000264709.3:p.Leu905=
ENST00000321117.9:c.2715G>C	ENSP00000324375.5:p.Leu905=
ENST00000380746.8:c.2148G>C	ENSP00000370122.4:p.Leu716=
ENST00000380756.7:c.*568G>C	ENSP00000370132.3:n.*568G>C
ENST00000402667.1:c.2046G>C	ENSP00000384237.1:p.Leu682=
NM_022552.4:c.2715G>C , LRG_459t1:c.2715G>C	NP_072046.2:p.Leu905=
NM_153759.3:c.2148G>C , LRG_459t2:c.2148G>C	NP_715640.2:p.Leu716=
NM_175629.2:c.2715G>C , LRG_459t4:c.2715G>C	NP_783328.1:p.Leu905=
XM_005264175.3:c.2715G>C	XP_005264232.1:p.Leu905=
XM_005264177.3:c.2046G>C	XP_005264234.1:p.Leu682=
XM_006711958.2:c.2271G>C	XP_006712021.1:p.Leu757=
XM_011532662.1:c.2568G>C	XP_011530964.1:p.Leu856=
XM_011532663.1:c.2550G>C	XP_011530965.1:p.Leu850=
XM_011532665.1:c.2259G>C	XP_011530967.1:p.Leu753=
XM_011532666.1:c.2187G>C	XP_011530968.1:p.Leu729=
XM_011532667.1:c.2046G>C	XP_011530969.1:p.Leu682=
NM_001320893.1:c.2259G>C	NP_001307822.1:p.Leu753=
NR_135490.1:n.3252G>C
XM_005264175.5:c.2715G>C	XP_005264232.1:p.Leu905=
XM_005264177.4:c.2046G>C	XP_005264234.1:p.Leu682=
XM_011532662.2:c.2568G>C	XP_011530964.1:p.Leu856=
XM_011532663.2:c.2550G>C	XP_011530965.1:p.Leu850=
XM_011532666.2:c.2187G>C	XP_011530968.1:p.Leu729=
XM_011532667.3:c.2046G>C	XP_011530969.1:p.Leu682=
XM_017003526.1:c.2715G>C	XP_016859015.1:p.Leu905=
XM_017003527.1:c.2046G>C	XP_016859016.1:p.Leu682=
XR_001738657.1:n.2922G>C
NM_001375819.1:c.2046G>C	NP_001362748.1:p.Leu682=
NR_135490.2:n.3145G>C
NM_022552.5:c.2715G>C MANE Select	NP_072046.2:p.Leu905=