Canonical Allele Identifier: CA305183854
Gene: S1PR2 HGNC NCBI
DNMT1 HGNC NCBI

Linked Data

dbSNP Id: rs370704501
gnomAD v3: 19-10223934-G-C
gnomAD v4: 19-10223934-G-C
MyVariant Identifiers: chr19:g.10334610G>C (hg19) chr19:g.10223934G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223934G>C , CM000681.2:g.10223934G>C GRCh38
NC_000019.9:g.10334610G>C , CM000681.1:g.10334610G>C GRCh37
NC_000019.8:g.10195610G>C NCBI36
NG_028016.3:g.12353C>G , LRG_362:g.12353C>G
NG_046802.1:g.12874C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.972C>G (S1PR2) MANE Select ENSP00000496438.1:p.His324Gln
ENST00000588952.5:c.-401-5065C>G (DNMT1) ENSP00000467050.1:n.-401-5065C>G
ENST00000590320.2:c.972C>G (S1PR2) ENSP00000466933.1:p.His324Gln
ENST00000592342.5:c.-284+7270C>G (DNMT1) ENSP00000465993.1:n.-284+7270C>G
NM_004230.3:c.972C>G (S1PR2) NP_004221.3:p.His324Gln
XM_011528425.1:c.894+78C>G (S1PR2) XP_011526727.1:n.894+78C>G
NM_004230.4:c.972C>G (S1PR2) MANE Select NP_004221.3:p.His324Gln
Search 100 bp 5'
Search 100 bp 3'