Canonical Allele Identifier: CA403947701

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10224396C>G , CM000681.2:g.10224396C>G GRCh38
NC_000019.9:g.10335072C>G , CM000681.1:g.10335072C>G GRCh37
NC_000019.8:g.10196072C>G NCBI36
NG_028016.3:g.11891G>C , LRG_362:g.11891G>C
NG_046802.1:g.12412G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000646641.1:c.510G>C (S1PR2) MANE Select ENSP00000496438.1:p.Trp170Cys
ENST00000588952.5:c.-401-5527G>C (DNMT1) ENSP00000467050.1:n.-401-5527G>C
ENST00000590320.2:c.510G>C (S1PR2) ENSP00000466933.1:p.Trp170Cys
ENST00000592342.5:c.-284+6808G>C (DNMT1) ENSP00000465993.1:n.-284+6808G>C
NM_004230.3:c.510G>C (S1PR2) NP_004221.3:p.Trp170Cys
XM_011528425.1:c.510G>C (S1PR2) XP_011526727.1:p.Trp170Cys
NM_004230.4:c.510G>C (S1PR2) MANE Select NP_004221.3:p.Trp170Cys