Canonical Allele Identifier: CA353485
Gene: S1PR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 219249
ClinVar RCV Id: RCV000210070
dbSNP Id: rs869312750

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10224487T>C , CM000681.2:g.10224487T>C GRCh38
NC_000019.9:g.10335163T>C , CM000681.1:g.10335163T>C GRCh37
NC_000019.8:g.10196163T>C NCBI36
NG_028016.3:g.11800A>G , LRG_362:g.11800A>G
NG_046802.1:g.12321A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000646641.1:c.419A>G MANE Select ENSP00000496438.1:p.Tyr140Cys
ENST00000588952.5:c.-401-5618A>G ENSP00000467050.1:p.=
ENST00000590320.2:c.419A>G ENSP00000466933.1:p.Tyr140Cys
ENST00000592342.5:c.-284+6717A>G ENSP00000465993.1:p.=
NM_004230.3:c.419A>G NP_004221.3:p.Tyr140Cys
XM_011528425.1:c.419A>G XP_011526727.1:p.Tyr140Cys
NM_004230.4:c.419A>G MANE Select NP_004221.3:p.Tyr140Cys