Canonical Allele Identifier: CA403947715

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10224398A>C , CM000681.2:g.10224398A>C GRCh38
NC_000019.9:g.10335074A>C , CM000681.1:g.10335074A>C GRCh37
NC_000019.8:g.10196074A>C NCBI36
NG_028016.3:g.11889T>G , LRG_362:g.11889T>G
NG_046802.1:g.12410T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000646641.1:c.508T>G (S1PR2) MANE Select ENSP00000496438.1:p.Trp170Gly
ENST00000588952.5:c.-401-5529T>G (DNMT1) ENSP00000467050.1:n.-401-5529T>G
ENST00000590320.2:c.508T>G (S1PR2) ENSP00000466933.1:p.Trp170Gly
ENST00000592342.5:c.-284+6806T>G (DNMT1) ENSP00000465993.1:n.-284+6806T>G
NM_004230.3:c.508T>G (S1PR2) NP_004221.3:p.Trp170Gly
XM_011528425.1:c.508T>G (S1PR2) XP_011526727.1:p.Trp170Gly
NM_004230.4:c.508T>G (S1PR2) MANE Select NP_004221.3:p.Trp170Gly