Canonical Allele Identifier: CA1555540

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 521889
• ClinVar RCV Id: RCV000624328
• dbSNP Id: rs781139634
• ExAC: 2:25458637 G / A
• gnomAD v2: 2-25458637-G-A
• gnomAD v3: 2-25235768-G-A
• gnomAD v4: 2-25235768-G-A
• MyVariant Identifiers: chr2:g.25458637G>A (hg19) ; chr2:g.25235768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25235768G>A , CM000664.2:g.25235768G>A	GRCh38
NC_000002.11:g.25458637G>A , CM000664.1:g.25458637G>A	GRCh37
NC_000002.10:g.25312141G>A	NCBI36
NG_029465.2:g.111823C>T , LRG_459:g.111823C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.785C>T
ENST00000683393.1:c.1682C>T	ENSP00000508654.1:n.1682C>T
ENST00000683760.1:c.1867C>T	ENSP00000507765.1:p.Gln623Ter
ENST00000321117.10:c.2536C>T MANE Select	ENSP00000324375.5:p.Gln846Ter
ENST00000264709.7:c.2536C>T	ENSP00000264709.3:p.Gln846Ter
ENST00000321117.9:c.2536C>T	ENSP00000324375.5:p.Gln846Ter
ENST00000380746.8:c.1969C>T	ENSP00000370122.4:p.Gln657Ter
ENST00000380756.7:c.*389C>T	ENSP00000370132.3:n.*389C>T
ENST00000402667.1:c.1867C>T	ENSP00000384237.1:p.Gln623Ter
ENST00000474887.5:n.785C>T
NM_022552.4:c.2536C>T , LRG_459t1:c.2536C>T	NP_072046.2:p.Gln846Ter
NM_153759.3:c.1969C>T , LRG_459t2:c.1969C>T	NP_715640.2:p.Gln657Ter
NM_175629.2:c.2536C>T , LRG_459t4:c.2536C>T	NP_783328.1:p.Gln846Ter
XM_005264175.3:c.2536C>T	XP_005264232.1:p.Gln846Ter
XM_005264177.3:c.1867C>T	XP_005264234.1:p.Gln623Ter
XM_006711957.2:c.*45C>T	XP_006712020.1:n.*45C>T
XM_006711958.2:c.2092C>T	XP_006712021.1:p.Gln698Ter
XM_011532662.1:c.2389C>T	XP_011530964.1:p.Gln797Ter
XM_011532663.1:c.2371C>T	XP_011530965.1:p.Gln791Ter
XM_011532665.1:c.2080C>T	XP_011530967.1:p.Gln694Ter
XM_011532666.1:c.2008C>T	XP_011530968.1:p.Gln670Ter
XM_011532667.1:c.1867C>T	XP_011530969.1:p.Gln623Ter
NM_001320893.1:c.2080C>T	NP_001307822.1:p.Gln694Ter
NR_135490.1:n.3073C>T
XM_005264175.5:c.2536C>T	XP_005264232.1:p.Gln846Ter
XM_005264177.4:c.1867C>T	XP_005264234.1:p.Gln623Ter
XM_011532662.2:c.2389C>T	XP_011530964.1:p.Gln797Ter
XM_011532663.2:c.2371C>T	XP_011530965.1:p.Gln791Ter
XM_011532666.2:c.2008C>T	XP_011530968.1:p.Gln670Ter
XM_011532667.3:c.1867C>T	XP_011530969.1:p.Gln623Ter
XM_017003526.1:c.2536C>T	XP_016859015.1:p.Gln846Ter
XM_017003527.1:c.1867C>T	XP_016859016.1:p.Gln623Ter
XR_001738657.1:n.2743C>T
NM_001375819.1:c.1867C>T	NP_001362748.1:p.Gln623Ter
NR_135490.2:n.2966C>T
NM_022552.5:c.2536C>T MANE Select	NP_072046.2:p.Gln846Ter