Canonical Allele Identifier: CA1555495

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 2918055
• ClinVar RCV Id: RCV003747643
• dbSNP Id: rs770134132
• ExAC: 2:25457265 A / G
• gnomAD v2: 2-25457265-A-G
• gnomAD v3: 2-25234396-A-G
• gnomAD v4: 2-25234396-A-G
• MyVariant Identifiers: chr2:g.25457265A>G (hg19) ; chr2:g.25234396A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234396A>G , CM000664.2:g.25234396A>G	GRCh38
NC_000002.11:g.25457265A>G , CM000664.1:g.25457265A>G	GRCh37
NC_000002.10:g.25310769A>G	NCBI36
NG_029465.2:g.113195T>C , LRG_459:g.113195T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.871T>C
ENST00000683393.1:c.1768T>C	ENSP00000508654.1:n.1768T>C
ENST00000683760.1:c.1953T>C	ENSP00000507765.1:p.Tyr651=
ENST00000321117.10:c.2622T>C MANE Select	ENSP00000324375.5:p.Tyr874=
ENST00000264709.7:c.2622T>C	ENSP00000264709.3:p.Tyr874=
ENST00000321117.9:c.2622T>C	ENSP00000324375.5:p.Tyr874=
ENST00000380746.8:c.2055T>C	ENSP00000370122.4:p.Tyr685=
ENST00000380756.7:c.*475T>C	ENSP00000370132.3:n.*475T>C
ENST00000402667.1:c.1953T>C	ENSP00000384237.1:p.Tyr651=
NM_022552.4:c.2622T>C , LRG_459t1:c.2622T>C	NP_072046.2:p.Tyr874=
NM_153759.3:c.2055T>C , LRG_459t2:c.2055T>C	NP_715640.2:p.Tyr685=
NM_175629.2:c.2622T>C , LRG_459t4:c.2622T>C	NP_783328.1:p.Tyr874=
XM_005264175.3:c.2622T>C	XP_005264232.1:p.Tyr874=
XM_005264177.3:c.1953T>C	XP_005264234.1:p.Tyr651=
XM_006711958.2:c.2178T>C	XP_006712021.1:p.Tyr726=
XM_011532662.1:c.2475T>C	XP_011530964.1:p.Tyr825=
XM_011532663.1:c.2457T>C	XP_011530965.1:p.Tyr819=
XM_011532665.1:c.2166T>C	XP_011530967.1:p.Tyr722=
XM_011532666.1:c.2094T>C	XP_011530968.1:p.Tyr698=
XM_011532667.1:c.1953T>C	XP_011530969.1:p.Tyr651=
NM_001320893.1:c.2166T>C	NP_001307822.1:p.Tyr722=
NR_135490.1:n.3159T>C
XM_005264175.5:c.2622T>C	XP_005264232.1:p.Tyr874=
XM_005264177.4:c.1953T>C	XP_005264234.1:p.Tyr651=
XM_011532662.2:c.2475T>C	XP_011530964.1:p.Tyr825=
XM_011532663.2:c.2457T>C	XP_011530965.1:p.Tyr819=
XM_011532666.2:c.2094T>C	XP_011530968.1:p.Tyr698=
XM_011532667.3:c.1953T>C	XP_011530969.1:p.Tyr651=
XM_017003526.1:c.2622T>C	XP_016859015.1:p.Tyr874=
XM_017003527.1:c.1953T>C	XP_016859016.1:p.Tyr651=
XR_001738657.1:n.2829T>C
NM_001375819.1:c.1953T>C	NP_001362748.1:p.Tyr651=
NR_135490.2:n.3052T>C
NM_022552.5:c.2622T>C MANE Select	NP_072046.2:p.Tyr874=