Canonical Allele Identifier: CA9189064
Gene: S1PR2 HGNC NCBI
DNMT1 HGNC NCBI

Linked Data

dbSNP Id: rs757567998
ExAC: 19:10334980 A / G
gnomAD v2: 19-10334980-A-G
gnomAD v3: 19-10224304-A-G
gnomAD v4: 19-10224304-A-G
MyVariant Identifiers: chr19:g.10334980A>G (hg19) chr19:g.10224304A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10224304A>G , CM000681.2:g.10224304A>G GRCh38
NC_000019.9:g.10334980A>G , CM000681.1:g.10334980A>G GRCh37
NC_000019.8:g.10195980A>G NCBI36
NG_028016.3:g.11983T>C , LRG_362:g.11983T>C
NG_046802.1:g.12504T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000646641.1:c.602T>C (S1PR2) MANE Select ENSP00000496438.1:p.Ile201Thr
ENST00000588952.5:c.-401-5435T>C (DNMT1) ENSP00000467050.1:n.-401-5435T>C
ENST00000590320.2:c.602T>C (S1PR2) ENSP00000466933.1:p.Ile201Thr
ENST00000592342.5:c.-284+6900T>C (DNMT1) ENSP00000465993.1:n.-284+6900T>C
NM_004230.3:c.602T>C (S1PR2) NP_004221.3:p.Ile201Thr
XM_011528425.1:c.602T>C (S1PR2) XP_011526727.1:p.Ile201Thr
NM_004230.4:c.602T>C (S1PR2) MANE Select NP_004221.3:p.Ile201Thr
Search 100 bp 5'
Search 100 bp 3'