Canonical Allele Identifier: CA1555511

Gene: DNMT3A

Linked Data

• dbSNP Id: rs778490081
• ExAC: 2:25457323 T / G
• gnomAD v2: 2-25457323-T-G
• gnomAD v4: 2-25234454-T-G
• MyVariant Identifiers: chr2:g.25457323T>G (hg19) ; chr2:g.25234454T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234454T>G , CM000664.2:g.25234454T>G	GRCh38
NC_000002.11:g.25457323T>G , CM000664.1:g.25457323T>G	GRCh37
NC_000002.10:g.25310827T>G	NCBI36
NG_029465.2:g.113137A>C , LRG_459:g.113137A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.847-34A>C
ENST00000683393.1:c.1744-34A>C	ENSP00000508654.1:n.1744-34A>C
ENST00000683760.1:c.1929-34A>C	ENSP00000507765.1:n.1929-34A>C
ENST00000321117.10:c.2598-34A>C MANE Select	ENSP00000324375.5:n.2598-34A>C
ENST00000264709.7:c.2598-34A>C	ENSP00000264709.3:n.2598-34A>C
ENST00000321117.9:c.2598-34A>C	ENSP00000324375.5:n.2598-34A>C
ENST00000380746.8:c.2031-34A>C	ENSP00000370122.4:n.2031-34A>C
ENST00000380756.7:c.*451-34A>C	ENSP00000370132.3:n.*451-34A>C
ENST00000402667.1:c.1929-34A>C	ENSP00000384237.1:n.1929-34A>C
NM_022552.4:c.2598-34A>C , LRG_459t1:c.2598-34A>C	NP_072046.2:n.2598-34A>C
NM_153759.3:c.2031-34A>C , LRG_459t2:c.2031-34A>C	NP_715640.2:n.2031-34A>C
NM_175629.2:c.2598-34A>C , LRG_459t4:c.2598-34A>C	NP_783328.1:n.2598-34A>C
XM_005264175.3:c.2598-34A>C	XP_005264232.1:n.2598-34A>C
XM_005264177.3:c.1929-34A>C	XP_005264234.1:n.1929-34A>C
XM_006711958.2:c.2154-34A>C	XP_006712021.1:n.2154-34A>C
XM_011532662.1:c.2451-34A>C	XP_011530964.1:n.2451-34A>C
XM_011532663.1:c.2433-34A>C	XP_011530965.1:n.2433-34A>C
XM_011532665.1:c.2142-34A>C	XP_011530967.1:n.2142-34A>C
XM_011532666.1:c.2070-34A>C	XP_011530968.1:n.2070-34A>C
XM_011532667.1:c.1929-34A>C	XP_011530969.1:n.1929-34A>C
NM_001320893.1:c.2142-34A>C	NP_001307822.1:n.2142-34A>C
NR_135490.1:n.3135-34A>C
XM_005264175.5:c.2598-34A>C	XP_005264232.1:n.2598-34A>C
XM_005264177.4:c.1929-34A>C	XP_005264234.1:n.1929-34A>C
XM_011532662.2:c.2451-34A>C	XP_011530964.1:n.2451-34A>C
XM_011532663.2:c.2433-34A>C	XP_011530965.1:n.2433-34A>C
XM_011532666.2:c.2070-34A>C	XP_011530968.1:n.2070-34A>C
XM_011532667.3:c.1929-34A>C	XP_011530969.1:n.1929-34A>C
XM_017003526.1:c.2598-34A>C	XP_016859015.1:n.2598-34A>C
XM_017003527.1:c.1929-34A>C	XP_016859016.1:n.1929-34A>C
XR_001738657.1:n.2805-34A>C
NM_001375819.1:c.1929-34A>C	NP_001362748.1:n.1929-34A>C
NR_135490.2:n.3028-34A>C
NM_022552.5:c.2598-34A>C MANE Select	NP_072046.2:n.2598-34A>C