Canonical Allele Identifier: CA346068888

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 2744155
• ClinVar RCV Id: RCV003584176
• MyVariant Identifiers: chr2:g.25459809G>A (hg19) ; chr2:g.25236940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25236940G>A , CM000664.2:g.25236940G>A	GRCh38
NC_000002.11:g.25459809G>A , CM000664.1:g.25459809G>A	GRCh37
NC_000002.10:g.25313313G>A	NCBI36
NG_029465.2:g.110651C>T , LRG_459:g.110651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.728-1115C>T
ENST00000683393.1:c.1620C>T	ENSP00000508654.1:n.1620C>T
ENST00000683760.1:c.1805C>T	ENSP00000507765.1:p.Ala602Val
ENST00000321117.10:c.2474C>T MANE Select	ENSP00000324375.5:p.Ala825Val
ENST00000264709.7:c.2474C>T	ENSP00000264709.3:p.Ala825Val
ENST00000321117.9:c.2474C>T	ENSP00000324375.5:p.Ala825Val
ENST00000380746.8:c.1907C>T	ENSP00000370122.4:p.Ala636Val
ENST00000380756.7:c.*327C>T	ENSP00000370132.3:n.*327C>T
ENST00000402667.1:c.1805C>T	ENSP00000384237.1:p.Ala602Val
ENST00000474887.5:n.728-1115C>T
ENST00000482935.5:n.474C>T
ENST00000491288.5:n.462C>T
NM_022552.4:c.2474C>T , LRG_459t1:c.2474C>T	NP_072046.2:p.Ala825Val
NM_153759.3:c.1907C>T , LRG_459t2:c.1907C>T	NP_715640.2:p.Ala636Val
NM_175629.2:c.2474C>T , LRG_459t4:c.2474C>T	NP_783328.1:p.Ala825Val
XM_005264175.3:c.2474C>T	XP_005264232.1:p.Ala825Val
XM_005264177.3:c.1805C>T	XP_005264234.1:p.Ala602Val
XM_006711957.2:c.2409-1115C>T	XP_006712020.1:n.2409-1115C>T
XM_006711958.2:c.2030C>T	XP_006712021.1:p.Ala677Val
XM_011532662.1:c.2327C>T	XP_011530964.1:p.Ala776Val
XM_011532663.1:c.2309C>T	XP_011530965.1:p.Ala770Val
XM_011532665.1:c.2018C>T	XP_011530967.1:p.Ala673Val
XM_011532666.1:c.1946C>T	XP_011530968.1:p.Ala649Val
XM_011532667.1:c.1805C>T	XP_011530969.1:p.Ala602Val
NM_001320893.1:c.2018C>T	NP_001307822.1:p.Ala673Val
NR_135490.1:n.3011C>T
XM_005264175.5:c.2474C>T	XP_005264232.1:p.Ala825Val
XM_005264177.4:c.1805C>T	XP_005264234.1:p.Ala602Val
XM_011532662.2:c.2327C>T	XP_011530964.1:p.Ala776Val
XM_011532663.2:c.2309C>T	XP_011530965.1:p.Ala770Val
XM_011532666.2:c.1946C>T	XP_011530968.1:p.Ala649Val
XM_011532667.3:c.1805C>T	XP_011530969.1:p.Ala602Val
XM_017003526.1:c.2474C>T	XP_016859015.1:p.Ala825Val
XM_017003527.1:c.1805C>T	XP_016859016.1:p.Ala602Val
XR_001738657.1:n.2686-1115C>T
NM_001375819.1:c.1805C>T	NP_001362748.1:p.Ala602Val
NR_135490.2:n.2904C>T
NM_022552.5:c.2474C>T MANE Select	NP_072046.2:p.Ala825Val