Canonical Allele Identifier: CA403947823
Gene: S1PR2 HGNC NCBI
DNMT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.10335088A>C (hg19) chr19:g.10224412A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10224412A>C , CM000681.2:g.10224412A>C GRCh38
NC_000019.9:g.10335088A>C , CM000681.1:g.10335088A>C GRCh37
NC_000019.8:g.10196088A>C NCBI36
NG_028016.3:g.11875T>G , LRG_362:g.11875T>G
NG_046802.1:g.12396T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000646641.1:c.494T>G (S1PR2) MANE Select ENSP00000496438.1:p.Leu165Arg
ENST00000588952.5:c.-401-5543T>G (DNMT1) ENSP00000467050.1:n.-401-5543T>G
ENST00000590320.2:c.494T>G (S1PR2) ENSP00000466933.1:p.Leu165Arg
ENST00000592342.5:c.-284+6792T>G (DNMT1) ENSP00000465993.1:n.-284+6792T>G
NM_004230.3:c.494T>G (S1PR2) NP_004221.3:p.Leu165Arg
XM_011528425.1:c.494T>G (S1PR2) XP_011526727.1:p.Leu165Arg
NM_004230.4:c.494T>G (S1PR2) MANE Select NP_004221.3:p.Leu165Arg
Search 100 bp 5'
Search 100 bp 3'