Canonical Allele Identifier: CA305183856
Gene: S1PR2 HGNC NCBI
DNMT1 HGNC NCBI

Linked Data

dbSNP Id: rs748108934
gnomAD v4: 19-10223943-C-G
MyVariant Identifiers: chr19:g.10334619C>G (hg19) chr19:g.10223943C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.963G>C (S1PR2) MANE Select ENSP00000496438.1:p.Pro321=
ENST00000588952.5:c.-401-5074G>C (DNMT1) ENSP00000467050.1:n.-401-5074G>C
ENST00000590320.2:c.963G>C (S1PR2) ENSP00000466933.1:p.Pro321=
ENST00000592342.5:c.-284+7261G>C (DNMT1) ENSP00000465993.1:n.-284+7261G>C
NM_004230.3:c.963G>C (S1PR2) NP_004221.3:p.Pro321=
XM_011528425.1:c.894+69G>C (S1PR2) XP_011526727.1:n.894+69G>C
NM_004230.4:c.963G>C (S1PR2) MANE Select NP_004221.3:p.Pro321=
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Search 100 bp 3'