Canonical Allele Identifier: CA2588336216

Gene: S1PR2 DNMT1

Linked Data

• gnomAD v4: 19-10223759-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10223759T>C , CM000681.2:g.10223759T>C	GRCh38
NC_000019.9:g.10334435T>C , CM000681.1:g.10334435T>C	GRCh37
NC_000019.8:g.10195435T>C	NCBI36
NG_028016.3:g.12528A>G , LRG_362:g.12528A>G
NG_046802.1:g.13049A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646641.1:c.*85A>G (S1PR2) MANE Select	ENSP00000496438.1:n.*85A>G
ENST00000588952.5:c.-401-4890A>G (DNMT1)	ENSP00000467050.1:n.-401-4890A>G
ENST00000590320.2:c.*85A>G (S1PR2)	ENSP00000466933.1:n.*85A>G
ENST00000592342.5:c.-284+7445A>G (DNMT1)	ENSP00000465993.1:n.-284+7445A>G
NM_004230.3:c.*85A>G (S1PR2)	NP_004221.3:n.*85A>G
XM_011528425.1:c.894+253A>G (S1PR2)	XP_011526727.1:n.894+253A>G
NM_004230.4:c.*85A>G (S1PR2) MANE Select	NP_004221.3:n.*85A>G