Canonical Allele Identifier: CA2588336223
Gene: S1PR2 HGNC NCBI
DNMT1 HGNC NCBI

Linked Data

gnomAD v4: 19-10223761-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10223761G>T , CM000681.2:g.10223761G>T GRCh38
NC_000019.9:g.10334437G>T , CM000681.1:g.10334437G>T GRCh37
NC_000019.8:g.10195437G>T NCBI36
NG_028016.3:g.12526C>A , LRG_362:g.12526C>A
NG_046802.1:g.13047C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646641.1:c.*83C>A (S1PR2) MANE Select ENSP00000496438.1:n.*83C>A
ENST00000588952.5:c.-401-4892C>A (DNMT1) ENSP00000467050.1:n.-401-4892C>A
ENST00000590320.2:c.*83C>A (S1PR2) ENSP00000466933.1:n.*83C>A
ENST00000592342.5:c.-284+7443C>A (DNMT1) ENSP00000465993.1:n.-284+7443C>A
NM_004230.3:c.*83C>A (S1PR2) NP_004221.3:n.*83C>A
XM_011528425.1:c.894+251C>A (S1PR2) XP_011526727.1:n.894+251C>A
NM_004230.4:c.*83C>A (S1PR2) MANE Select NP_004221.3:n.*83C>A
Search 100 bp 5'
Search 100 bp 3'