Canonical Allele Identifier: CA9189084

Linked Data

ClinVar Variation Id: 521969
ClinVar RCV Id: RCV000622941
dbSNP Id: rs758826475

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10224430G>A , CM000681.2:g.10224430G>A GRCh38
NC_000019.9:g.10335106G>A , CM000681.1:g.10335106G>A GRCh37
NC_000019.8:g.10196106G>A NCBI36
NG_028016.3:g.11857C>T , LRG_362:g.11857C>T
NG_046802.1:g.12378C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.476C>T (S1PR2) MANE Select ENSP00000496438.1:p.Ser159Leu
ENST00000588952.5:c.-401-5561C>T (DNMT1) ENSP00000467050.1:n.-401-5561C>T
ENST00000590320.2:c.476C>T (S1PR2) ENSP00000466933.1:p.Ser159Leu
ENST00000592342.5:c.-284+6774C>T (DNMT1) ENSP00000465993.1:n.-284+6774C>T
NM_004230.3:c.476C>T (S1PR2) NP_004221.3:p.Ser159Leu
XM_011528425.1:c.476C>T (S1PR2) XP_011526727.1:p.Ser159Leu
NM_004230.4:c.476C>T (S1PR2) MANE Select NP_004221.3:p.Ser159Leu