Canonical Allele Identifier: CA403945103
Gene: S1PR2 HGNC NCBI
DNMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1280629892
gnomAD v4: 19-10223894-T-C
MyVariant Identifiers: chr19:g.10334570T>C (hg19) chr19:g.10223894T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223894T>C , CM000681.2:g.10223894T>C GRCh38
NC_000019.9:g.10334570T>C , CM000681.1:g.10334570T>C GRCh37
NC_000019.8:g.10195570T>C NCBI36
NG_028016.3:g.12393A>G , LRG_362:g.12393A>G
NG_046802.1:g.12914A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.1012A>G (S1PR2) MANE Select ENSP00000496438.1:p.Met338Val
ENST00000588952.5:c.-401-5025A>G (DNMT1) ENSP00000467050.1:n.-401-5025A>G
ENST00000590320.2:c.1012A>G (S1PR2) ENSP00000466933.1:p.Met338Val
ENST00000592342.5:c.-284+7310A>G (DNMT1) ENSP00000465993.1:n.-284+7310A>G
NM_004230.3:c.1012A>G (S1PR2) NP_004221.3:p.Met338Val
XM_011528425.1:c.894+118A>G (S1PR2) XP_011526727.1:n.894+118A>G
NM_004230.4:c.1012A>G (S1PR2) MANE Select NP_004221.3:p.Met338Val
Search 100 bp 5'
Search 100 bp 3'