Canonical Allele Identifier: CA2322323089

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223847G= , CM000681.2:g.10223847G= GRCh38
NC_000019.9:g.10334523G= , CM000681.1:g.10334523G= GRCh37
NC_000019.8:g.10195523G= NCBI36
NG_028016.3:g.12440C= , LRG_362:g.12440C=
NG_046802.1:g.12961C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.1059C= (S1PR2) MANE Select ENSP00000496438.1:p.Val353=
ENST00000588952.5:c.-401-4978C= (DNMT1) ENSP00000467050.1:n.-401-4978C=
ENST00000590320.2:c.1059C= (S1PR2) ENSP00000466933.1:p.Val353=
ENST00000592342.5:c.-284+7357C= (DNMT1) ENSP00000465993.1:n.-284+7357C=
NM_004230.3:c.1059C= (S1PR2) NP_004221.3:p.Val353=
XM_011528425.1:c.894+165C= (S1PR2) XP_011526727.1:n.894+165C=
NM_004230.4:c.1059C= (S1PR2) MANE Select NP_004221.3:p.Val353=