Canonical Allele Identifier: CA505367471

Gene: S1PR2 DNMT1

Linked Data

• dbSNP Id: rs1323435306
• gnomAD v2: 19-10334559-G-T
• gnomAD v4: 19-10223883-G-T
• MyVariant Identifiers: chr19:g.10334559G>T (hg19) ; chr19:g.10223883G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10223883G>T , CM000681.2:g.10223883G>T	GRCh38
NC_000019.9:g.10334559G>T , CM000681.1:g.10334559G>T	GRCh37
NC_000019.8:g.10195559G>T	NCBI36
NG_028016.3:g.12404C>A , LRG_362:g.12404C>A
NG_046802.1:g.12925C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646641.1:c.1023C>A (S1PR2) MANE Select	ENSP00000496438.1:p.Pro341=
ENST00000588952.5:c.-401-5014C>A (DNMT1)	ENSP00000467050.1:n.-401-5014C>A
ENST00000590320.2:c.1023C>A (S1PR2)	ENSP00000466933.1:p.Pro341=
ENST00000592342.5:c.-284+7321C>A (DNMT1)	ENSP00000465993.1:n.-284+7321C>A
NM_004230.3:c.1023C>A (S1PR2)	NP_004221.3:p.Pro341=
XM_011528425.1:c.894+129C>A (S1PR2)	XP_011526727.1:n.894+129C>A
NM_004230.4:c.1023C>A (S1PR2) MANE Select	NP_004221.3:p.Pro341=