Canonical Allele Identifier: CA9188933
Gene: S1PR2 HGNC NCBI
DNMT1 HGNC NCBI

Linked Data

dbSNP Id: rs753104727
ExAC: 19:10334481 C / A
gnomAD v2: 19-10334481-C-A
gnomAD v3: 19-10223805-C-A
gnomAD v4: 19-10223805-C-A
MyVariant Identifiers: chr19:g.10334481C>A (hg19) chr19:g.10223805C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223805C>A , CM000681.2:g.10223805C>A GRCh38
NC_000019.9:g.10334481C>A , CM000681.1:g.10334481C>A GRCh37
NC_000019.8:g.10195481C>A NCBI36
NG_028016.3:g.12482G>T , LRG_362:g.12482G>T
NG_046802.1:g.13003G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.*39G>T (S1PR2) MANE Select ENSP00000496438.1:n.*39G>T
ENST00000588952.5:c.-401-4936G>T (DNMT1) ENSP00000467050.1:n.-401-4936G>T
ENST00000590320.2:c.*39G>T (S1PR2) ENSP00000466933.1:n.*39G>T
ENST00000592342.5:c.-284+7399G>T (DNMT1) ENSP00000465993.1:n.-284+7399G>T
NM_004230.3:c.*39G>T (S1PR2) NP_004221.3:n.*39G>T
XM_011528425.1:c.894+207G>T (S1PR2) XP_011526727.1:n.894+207G>T
NM_004230.4:c.*39G>T (S1PR2) MANE Select NP_004221.3:n.*39G>T
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