Canonical Allele Identifier: CA403947418

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10224350A>G , CM000681.2:g.10224350A>G GRCh38
NC_000019.9:g.10335026A>G , CM000681.1:g.10335026A>G GRCh37
NC_000019.8:g.10196026A>G NCBI36
NG_028016.3:g.11937T>C , LRG_362:g.11937T>C
NG_046802.1:g.12458T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.556T>C (S1PR2) MANE Select ENSP00000496438.1:p.Tyr186His
ENST00000588952.5:c.-401-5481T>C (DNMT1) ENSP00000467050.1:n.-401-5481T>C
ENST00000590320.2:c.556T>C (S1PR2) ENSP00000466933.1:p.Tyr186His
ENST00000592342.5:c.-284+6854T>C (DNMT1) ENSP00000465993.1:n.-284+6854T>C
NM_004230.3:c.556T>C (S1PR2) NP_004221.3:p.Tyr186His
XM_011528425.1:c.556T>C (S1PR2) XP_011526727.1:p.Tyr186His
NM_004230.4:c.556T>C (S1PR2) MANE Select NP_004221.3:p.Tyr186His