Canonical Allele Identifier: CA403944977

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223885G>A , CM000681.2:g.10223885G>A GRCh38
NC_000019.9:g.10334561G>A , CM000681.1:g.10334561G>A GRCh37
NC_000019.8:g.10195561G>A NCBI36
NG_028016.3:g.12402C>T , LRG_362:g.12402C>T
NG_046802.1:g.12923C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.1021C>T (S1PR2) MANE Select ENSP00000496438.1:p.Pro341Ser
ENST00000588952.5:c.-401-5016C>T (DNMT1) ENSP00000467050.1:n.-401-5016C>T
ENST00000590320.2:c.1021C>T (S1PR2) ENSP00000466933.1:p.Pro341Ser
ENST00000592342.5:c.-284+7319C>T (DNMT1) ENSP00000465993.1:n.-284+7319C>T
NM_004230.3:c.1021C>T (S1PR2) NP_004221.3:p.Pro341Ser
XM_011528425.1:c.894+127C>T (S1PR2) XP_011526727.1:n.894+127C>T
NM_004230.4:c.1021C>T (S1PR2) MANE Select NP_004221.3:p.Pro341Ser