Canonical Allele Identifier: CA2588336236

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223773T>C , CM000681.2:g.10223773T>C GRCh38
NC_000019.9:g.10334449T>C , CM000681.1:g.10334449T>C GRCh37
NC_000019.8:g.10195449T>C NCBI36
NG_028016.3:g.12514A>G , LRG_362:g.12514A>G
NG_046802.1:g.13035A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.*71A>G (S1PR2) MANE Select ENSP00000496438.1:n.*71A>G
ENST00000588952.5:c.-401-4904A>G (DNMT1) ENSP00000467050.1:n.-401-4904A>G
ENST00000590320.2:c.*71A>G (S1PR2) ENSP00000466933.1:n.*71A>G
ENST00000592342.5:c.-284+7431A>G (DNMT1) ENSP00000465993.1:n.-284+7431A>G
NM_004230.3:c.*71A>G (S1PR2) NP_004221.3:n.*71A>G
XM_011528425.1:c.894+239A>G (S1PR2) XP_011526727.1:n.894+239A>G
NM_004230.4:c.*71A>G (S1PR2) MANE Select NP_004221.3:n.*71A>G