Canonical Allele Identifier: CA403944740

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223851A>G , CM000681.2:g.10223851A>G GRCh38
NC_000019.9:g.10334527A>G , CM000681.1:g.10334527A>G GRCh37
NC_000019.8:g.10195527A>G NCBI36
NG_028016.3:g.12436T>C , LRG_362:g.12436T>C
NG_046802.1:g.12957T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.1055T>C (S1PR2) MANE Select ENSP00000496438.1:p.Val352Ala
ENST00000588952.5:c.-401-4982T>C (DNMT1) ENSP00000467050.1:n.-401-4982T>C
ENST00000590320.2:c.1055T>C (S1PR2) ENSP00000466933.1:p.Val352Ala
ENST00000592342.5:c.-284+7353T>C (DNMT1) ENSP00000465993.1:n.-284+7353T>C
NM_004230.3:c.1055T>C (S1PR2) NP_004221.3:p.Val352Ala
XM_011528425.1:c.894+161T>C (S1PR2) XP_011526727.1:n.894+161T>C
NM_004230.4:c.1055T>C (S1PR2) MANE Select NP_004221.3:p.Val352Ala