Canonical Allele Identifier: CA346070088

Gene: DNMT3A

Linked Data

• MyVariant Identifiers: chr2:g.25463261C>G (hg19) ; chr2:g.25240392C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240392C>G , CM000664.2:g.25240392C>G	GRCh38
NC_000002.11:g.25463261C>G , CM000664.1:g.25463261C>G	GRCh37
NC_000002.10:g.25316765C>G	NCBI36
NG_029465.2:g.107199G>C , LRG_459:g.107199G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.551G>C
ENST00000683393.1:c.1378G>C	ENSP00000508654.1:n.1378G>C
ENST00000683760.1:c.1563G>C	ENSP00000507765.1:p.Lys521Asn
ENST00000321117.10:c.2232G>C MANE Select	ENSP00000324375.5:p.Lys744Asn
ENST00000264709.7:c.2232G>C	ENSP00000264709.3:p.Lys744Asn
ENST00000321117.9:c.2232G>C	ENSP00000324375.5:p.Lys744Asn
ENST00000380746.8:c.1665G>C	ENSP00000370122.4:p.Lys555Asn
ENST00000380756.7:c.2232G>C	ENSP00000370132.3:p.Lys744Asn
ENST00000402667.1:c.1563G>C	ENSP00000384237.1:p.Lys521Asn
ENST00000461228.1:n.451G>C
ENST00000466601.5:n.604G>C
ENST00000474887.5:n.551G>C
ENST00000482935.5:n.232G>C
ENST00000491288.5:n.310+248G>C
NM_022552.4:c.2232G>C , LRG_459t1:c.2232G>C	NP_072046.2:p.Lys744Asn
NM_153759.3:c.1665G>C , LRG_459t2:c.1665G>C	NP_715640.2:p.Lys555Asn
NM_175629.2:c.2232G>C , LRG_459t4:c.2232G>C	NP_783328.1:p.Lys744Asn
XM_005264175.3:c.2232G>C	XP_005264232.1:p.Lys744Asn
XM_005264177.3:c.1563G>C	XP_005264234.1:p.Lys521Asn
XM_006711957.2:c.2232G>C	XP_006712020.1:p.Lys744Asn
XM_006711958.2:c.1788G>C	XP_006712021.1:p.Lys596Asn
XM_011532662.1:c.2085G>C	XP_011530964.1:p.Lys695Asn
XM_011532663.1:c.2067G>C	XP_011530965.1:p.Lys689Asn
XM_011532664.1:c.2232G>C	XP_011530966.1:p.Lys744Asn
XM_011532665.1:c.1776G>C	XP_011530967.1:p.Lys592Asn
XM_011532666.1:c.1704G>C	XP_011530968.1:p.Lys568Asn
XM_011532667.1:c.1563G>C	XP_011530969.1:p.Lys521Asn
XM_011532668.1:c.2232G>C	XP_011530970.1:p.Lys744Asn
NM_001320893.1:c.1776G>C	NP_001307822.1:p.Lys592Asn
NR_135490.1:n.2570G>C
XM_005264175.5:c.2232G>C	XP_005264232.1:p.Lys744Asn
XM_005264177.4:c.1563G>C	XP_005264234.1:p.Lys521Asn
XM_011532662.2:c.2085G>C	XP_011530964.1:p.Lys695Asn
XM_011532663.2:c.2067G>C	XP_011530965.1:p.Lys689Asn
XM_011532664.2:c.2232G>C	XP_011530966.1:p.Lys744Asn
XM_011532666.2:c.1704G>C	XP_011530968.1:p.Lys568Asn
XM_011532667.3:c.1563G>C	XP_011530969.1:p.Lys521Asn
XM_017003526.1:c.2232G>C	XP_016859015.1:p.Lys744Asn
XM_017003527.1:c.1563G>C	XP_016859016.1:p.Lys521Asn
XR_001738657.1:n.2509G>C
NM_001375819.1:c.1563G>C	NP_001362748.1:p.Lys521Asn
NR_135490.2:n.2463G>C
NM_022552.5:c.2232G>C MANE Select	NP_072046.2:p.Lys744Asn