Canonical Allele Identifier: CA9188965
Gene: S1PR2 HGNC NCBI
DNMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2973543
ClinVar RCV Id: RCV003830637
dbSNP Id: rs748108934
ExAC: 19:10334619 C / T
gnomAD v2: 19-10334619-C-T
gnomAD v3: 19-10223943-C-T
gnomAD v4: 19-10223943-C-T
MyVariant Identifiers: chr19:g.10334619C>T (hg19) chr19:g.10223943C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223943C>T , CM000681.2:g.10223943C>T GRCh38
NC_000019.9:g.10334619C>T , CM000681.1:g.10334619C>T GRCh37
NC_000019.8:g.10195619C>T NCBI36
NG_028016.3:g.12344G>A , LRG_362:g.12344G>A
NG_046802.1:g.12865G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.963G>A (S1PR2) MANE Select ENSP00000496438.1:p.Pro321=
ENST00000588952.5:c.-401-5074G>A (DNMT1) ENSP00000467050.1:n.-401-5074G>A
ENST00000590320.2:c.963G>A (S1PR2) ENSP00000466933.1:p.Pro321=
ENST00000592342.5:c.-284+7261G>A (DNMT1) ENSP00000465993.1:n.-284+7261G>A
NM_004230.3:c.963G>A (S1PR2) NP_004221.3:p.Pro321=
XM_011528425.1:c.894+69G>A (S1PR2) XP_011526727.1:n.894+69G>A
NM_004230.4:c.963G>A (S1PR2) MANE Select NP_004221.3:p.Pro321=
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