Canonical Allele Identifier: CA9188983

Gene: S1PR2 DNMT1

Linked Data

• ClinVar Variation Id: 506085
• ClinVar RCV Id: RCV000599846 ; RCV001796134 ; RCV002065202
• dbSNP Id: rs2116942
• ExAC: 19:10334663 T / G
• gnomAD v2: 19-10334663-T-G
• gnomAD v3: 19-10223987-T-G
• gnomAD v4: 19-10223987-T-G
• MyVariant Identifiers: chr19:g.10334663T>G (hg19) ; chr19:g.10223987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10223987T>G , CM000681.2:g.10223987T>G	GRCh38
NC_000019.9:g.10334663T>G , CM000681.1:g.10334663T>G	GRCh37
NC_000019.8:g.10195663T>G	NCBI36
NG_028016.3:g.12300A>C , LRG_362:g.12300A>C
NG_046802.1:g.12821A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646641.1:c.919A>C (S1PR2) MANE Select	ENSP00000496438.1:p.Arg307=
ENST00000588952.5:c.-401-5118A>C (DNMT1)	ENSP00000467050.1:n.-401-5118A>C
ENST00000590320.2:c.919A>C (S1PR2)	ENSP00000466933.1:p.Arg307=
ENST00000592342.5:c.-284+7217A>C (DNMT1)	ENSP00000465993.1:n.-284+7217A>C
NM_004230.3:c.919A>C (S1PR2)	NP_004221.3:p.Arg307=
XM_011528425.1:c.894+25A>C (S1PR2)	XP_011526727.1:n.894+25A>C
NM_004230.4:c.919A>C (S1PR2) MANE Select	NP_004221.3:p.Arg307=