Canonical Allele Identifier: CA645611556

Gene: S1PR2 DNMT1

Linked Data

• gnomAD v4: 19-10223943-CG-C
• COSMIC: COSM6048517

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10223947del , CM000681.2:g.10223947del	GRCh38
NC_000019.9:g.10334623del , CM000681.1:g.10334623del	GRCh37
NC_000019.8:g.10195623del	NCBI36
NG_028016.3:g.12343del , LRG_362:g.12343del
NG_046802.1:g.12864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646641.1:c.962del (S1PR2) MANE Select	ENSP00000496438.1:p.Pro321ArgfsTer?
ENST00000588952.5:c.-401-5075del (DNMT1)	ENSP00000467050.1:n.-401-5075del
ENST00000590320.2:c.962del (S1PR2)	ENSP00000466933.1:p.Pro321ArgfsTer?
ENST00000592342.5:c.-284+7260del (DNMT1)	ENSP00000465993.1:n.-284+7260del
NM_004230.3:c.962del (S1PR2)	NP_004221.3:p.Pro321ArgfsTer?
XM_011528425.1:c.894+68del (S1PR2)	XP_011526727.1:n.894+68del
NM_004230.4:c.962del (S1PR2) MANE Select	NP_004221.3:p.Pro321ArgfsTer?