Canonical Allele Identifier: CA403944892

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223870A>T , CM000681.2:g.10223870A>T GRCh38
NC_000019.9:g.10334546A>T , CM000681.1:g.10334546A>T GRCh37
NC_000019.8:g.10195546A>T NCBI36
NG_028016.3:g.12417T>A , LRG_362:g.12417T>A
NG_046802.1:g.12938T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.1036T>A (S1PR2) MANE Select ENSP00000496438.1:p.Phe346Ile
ENST00000588952.5:c.-401-5001T>A (DNMT1) ENSP00000467050.1:n.-401-5001T>A
ENST00000590320.2:c.1036T>A (S1PR2) ENSP00000466933.1:p.Phe346Ile
ENST00000592342.5:c.-284+7334T>A (DNMT1) ENSP00000465993.1:n.-284+7334T>A
NM_004230.3:c.1036T>A (S1PR2) NP_004221.3:p.Phe346Ile
XM_011528425.1:c.894+142T>A (S1PR2) XP_011526727.1:n.894+142T>A
NM_004230.4:c.1036T>A (S1PR2) MANE Select NP_004221.3:p.Phe346Ile