Canonical Allele Identifier: CA9188964
Gene: S1PR2 HGNC NCBI
DNMT1 HGNC NCBI

Linked Data

dbSNP Id: rs781086264
ExAC: 19:10334614 T / G
gnomAD v2: 19-10334614-T-G
gnomAD v4: 19-10223938-T-G
MyVariant Identifiers: chr19:g.10334614T>G (hg19) chr19:g.10223938T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223938T>G , CM000681.2:g.10223938T>G GRCh38
NC_000019.9:g.10334614T>G , CM000681.1:g.10334614T>G GRCh37
NC_000019.8:g.10195614T>G NCBI36
NG_028016.3:g.12349A>C , LRG_362:g.12349A>C
NG_046802.1:g.12870A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.968A>C (S1PR2) MANE Select ENSP00000496438.1:p.His323Pro
ENST00000588952.5:c.-401-5069A>C (DNMT1) ENSP00000467050.1:n.-401-5069A>C
ENST00000590320.2:c.968A>C (S1PR2) ENSP00000466933.1:p.His323Pro
ENST00000592342.5:c.-284+7266A>C (DNMT1) ENSP00000465993.1:n.-284+7266A>C
NM_004230.3:c.968A>C (S1PR2) NP_004221.3:p.His323Pro
XM_011528425.1:c.894+74A>C (S1PR2) XP_011526727.1:n.894+74A>C
NM_004230.4:c.968A>C (S1PR2) MANE Select NP_004221.3:p.His323Pro
Search 100 bp 5'
Search 100 bp 3'