Canonical Allele Identifier: CA403947461

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10224364G>A , CM000681.2:g.10224364G>A GRCh38
NC_000019.9:g.10335040G>A , CM000681.1:g.10335040G>A GRCh37
NC_000019.8:g.10196040G>A NCBI36
NG_028016.3:g.11923C>T , LRG_362:g.11923C>T
NG_046802.1:g.12444C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.542C>T (S1PR2) MANE Select ENSP00000496438.1:p.Thr181Ile
ENST00000588952.5:c.-401-5495C>T (DNMT1) ENSP00000467050.1:n.-401-5495C>T
ENST00000590320.2:c.542C>T (S1PR2) ENSP00000466933.1:p.Thr181Ile
ENST00000592342.5:c.-284+6840C>T (DNMT1) ENSP00000465993.1:n.-284+6840C>T
NM_004230.3:c.542C>T (S1PR2) NP_004221.3:p.Thr181Ile
XM_011528425.1:c.542C>T (S1PR2) XP_011526727.1:p.Thr181Ile
NM_004230.4:c.542C>T (S1PR2) MANE Select NP_004221.3:p.Thr181Ile