Canonical Allele Identifier: CA2588336230

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223768G>T , CM000681.2:g.10223768G>T GRCh38
NC_000019.9:g.10334444G>T , CM000681.1:g.10334444G>T GRCh37
NC_000019.8:g.10195444G>T NCBI36
NG_028016.3:g.12519C>A , LRG_362:g.12519C>A
NG_046802.1:g.13040C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.*76C>A (S1PR2) MANE Select ENSP00000496438.1:n.*76C>A
ENST00000588952.5:c.-401-4899C>A (DNMT1) ENSP00000467050.1:n.-401-4899C>A
ENST00000590320.2:c.*76C>A (S1PR2) ENSP00000466933.1:n.*76C>A
ENST00000592342.5:c.-284+7436C>A (DNMT1) ENSP00000465993.1:n.-284+7436C>A
NM_004230.3:c.*76C>A (S1PR2) NP_004221.3:n.*76C>A
XM_011528425.1:c.894+244C>A (S1PR2) XP_011526727.1:n.894+244C>A
NM_004230.4:c.*76C>A (S1PR2) MANE Select NP_004221.3:n.*76C>A