Canonical Allele Identifier: CA2588336217

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223759T>A , CM000681.2:g.10223759T>A GRCh38
NC_000019.9:g.10334435T>A , CM000681.1:g.10334435T>A GRCh37
NC_000019.8:g.10195435T>A NCBI36
NG_028016.3:g.12528A>T , LRG_362:g.12528A>T
NG_046802.1:g.13049A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.*85A>T (S1PR2) MANE Select ENSP00000496438.1:n.*85A>T
ENST00000588952.5:c.-401-4890A>T (DNMT1) ENSP00000467050.1:n.-401-4890A>T
ENST00000590320.2:c.*85A>T (S1PR2) ENSP00000466933.1:n.*85A>T
ENST00000592342.5:c.-284+7445A>T (DNMT1) ENSP00000465993.1:n.-284+7445A>T
NM_004230.3:c.*85A>T (S1PR2) NP_004221.3:n.*85A>T
XM_011528425.1:c.894+253A>T (S1PR2) XP_011526727.1:n.894+253A>T
NM_004230.4:c.*85A>T (S1PR2) MANE Select NP_004221.3:n.*85A>T