Canonical Allele Identifier: CA2588336278

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223821T>G , CM000681.2:g.10223821T>G GRCh38
NC_000019.9:g.10334497T>G , CM000681.1:g.10334497T>G GRCh37
NC_000019.8:g.10195497T>G NCBI36
NG_028016.3:g.12466A>C , LRG_362:g.12466A>C
NG_046802.1:g.12987A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.*23A>C (S1PR2) MANE Select ENSP00000496438.1:n.*23A>C
ENST00000588952.5:c.-401-4952A>C (DNMT1) ENSP00000467050.1:n.-401-4952A>C
ENST00000590320.2:c.*23A>C (S1PR2) ENSP00000466933.1:n.*23A>C
ENST00000592342.5:c.-284+7383A>C (DNMT1) ENSP00000465993.1:n.-284+7383A>C
NM_004230.3:c.*23A>C (S1PR2) NP_004221.3:n.*23A>C
XM_011528425.1:c.894+191A>C (S1PR2) XP_011526727.1:n.894+191A>C
NM_004230.4:c.*23A>C (S1PR2) MANE Select NP_004221.3:n.*23A>C