Canonical Allele Identifier: CA783165947

Gene: S1PR2 DNMT1

Linked Data

• dbSNP Id: rs1279553522
• gnomAD v3: 19-10223769-T-C
• gnomAD v4: 19-10223769-T-C
• MyVariant Identifiers: chr19:g.10334445T>C (hg19) ; chr19:g.10223769T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10223769T>C , CM000681.2:g.10223769T>C	GRCh38
NC_000019.9:g.10334445T>C , CM000681.1:g.10334445T>C	GRCh37
NC_000019.8:g.10195445T>C	NCBI36
NG_028016.3:g.12518A>G , LRG_362:g.12518A>G
NG_046802.1:g.13039A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646641.1:c.*75A>G (S1PR2) MANE Select	ENSP00000496438.1:n.*75A>G
ENST00000588952.5:c.-401-4900A>G (DNMT1)	ENSP00000467050.1:n.-401-4900A>G
ENST00000590320.2:c.*75A>G (S1PR2)	ENSP00000466933.1:n.*75A>G
ENST00000592342.5:c.-284+7435A>G (DNMT1)	ENSP00000465993.1:n.-284+7435A>G
NM_004230.3:c.*75A>G (S1PR2)	NP_004221.3:n.*75A>G
XM_011528425.1:c.894+243A>G (S1PR2)	XP_011526727.1:n.894+243A>G
NM_004230.4:c.*75A>G (S1PR2) MANE Select	NP_004221.3:n.*75A>G