Canonical Allele Identifier: CA9188937
Gene: S1PR2 HGNC NCBI
DNMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1429721021
ExAC: 19:10334516 A / C
gnomAD v2: 19-10334516-A-C
gnomAD v3: 19-10223840-A-C
gnomAD v4: 19-10223840-A-C
MyVariant Identifiers: chr19:g.10334516A>C (hg19) chr19:g.10334516_10334517delinsCC (hg19) chr19:g.10223840A>C (hg38) chr19:g.10223840_10223841delinsCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223840A>C , CM000681.2:g.10223840A>C GRCh38
NC_000019.9:g.10334516A>C , CM000681.1:g.10334516A>C GRCh37
NC_000019.8:g.10195516A>C NCBI36
NG_028016.3:g.12447T>G , LRG_362:g.12447T>G
NG_046802.1:g.12968T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.*4T>G (S1PR2) MANE Select ENSP00000496438.1:n.*4T>G
ENST00000588952.5:c.-401-4971T>G (DNMT1) ENSP00000467050.1:n.-401-4971T>G
ENST00000590320.2:c.*4T>G (S1PR2) ENSP00000466933.1:n.*4T>G
ENST00000592342.5:c.-284+7364T>G (DNMT1) ENSP00000465993.1:n.-284+7364T>G
NM_004230.3:c.*4T>G (S1PR2) NP_004221.3:n.*4T>G
XM_011528425.1:c.894+172T>G (S1PR2) XP_011526727.1:n.894+172T>G
NM_004230.4:c.*4T>G (S1PR2) MANE Select NP_004221.3:n.*4T>G
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