Canonical Allele Identifier: CA505468273

Gene: S1PR2 DNMT1

Linked Data

• dbSNP Id: rs1188657822
• gnomAD v2: 19-10335084-G-A
• gnomAD v3: 19-10224408-G-A
• gnomAD v4: 19-10224408-G-A
• MyVariant Identifiers: chr19:g.10335084G>A (hg19) ; chr19:g.10224408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10224408G>A , CM000681.2:g.10224408G>A	GRCh38
NC_000019.9:g.10335084G>A , CM000681.1:g.10335084G>A	GRCh37
NC_000019.8:g.10196084G>A	NCBI36
NG_028016.3:g.11879C>T , LRG_362:g.11879C>T
NG_046802.1:g.12400C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646641.1:c.498C>T (S1PR2) MANE Select	ENSP00000496438.1:p.Pro166=
ENST00000588952.5:c.-401-5539C>T (DNMT1)	ENSP00000467050.1:n.-401-5539C>T
ENST00000590320.2:c.498C>T (S1PR2)	ENSP00000466933.1:p.Pro166=
ENST00000592342.5:c.-284+6796C>T (DNMT1)	ENSP00000465993.1:n.-284+6796C>T
NM_004230.3:c.498C>T (S1PR2)	NP_004221.3:p.Pro166=
XM_011528425.1:c.498C>T (S1PR2)	XP_011526727.1:p.Pro166=
NM_004230.4:c.498C>T (S1PR2) MANE Select	NP_004221.3:p.Pro166=