Canonical Allele Identifier: CA403944749

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223852C>T , CM000681.2:g.10223852C>T GRCh38
NC_000019.9:g.10334528C>T , CM000681.1:g.10334528C>T GRCh37
NC_000019.8:g.10195528C>T NCBI36
NG_028016.3:g.12435G>A , LRG_362:g.12435G>A
NG_046802.1:g.12956G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.1054G>A (S1PR2) MANE Select ENSP00000496438.1:p.Val352Met
ENST00000588952.5:c.-401-4983G>A (DNMT1) ENSP00000467050.1:n.-401-4983G>A
ENST00000590320.2:c.1054G>A (S1PR2) ENSP00000466933.1:p.Val352Met
ENST00000592342.5:c.-284+7352G>A (DNMT1) ENSP00000465993.1:n.-284+7352G>A
NM_004230.3:c.1054G>A (S1PR2) NP_004221.3:p.Val352Met
XM_011528425.1:c.894+160G>A (S1PR2) XP_011526727.1:n.894+160G>A
NM_004230.4:c.1054G>A (S1PR2) MANE Select NP_004221.3:p.Val352Met