Canonical Allele Identifier: CA2588336290

Gene: S1PR2 DNMT1

Linked Data

• gnomAD v4: 19-10223839-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10223839C>G , CM000681.2:g.10223839C>G	GRCh38
NC_000019.9:g.10334515C>G , CM000681.1:g.10334515C>G	GRCh37
NC_000019.8:g.10195515C>G	NCBI36
NG_028016.3:g.12448G>C , LRG_362:g.12448G>C
NG_046802.1:g.12969G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646641.1:c.*5G>C (S1PR2) MANE Select	ENSP00000496438.1:n.*5G>C
ENST00000588952.5:c.-401-4970G>C (DNMT1)	ENSP00000467050.1:n.-401-4970G>C
ENST00000590320.2:c.*5G>C (S1PR2)	ENSP00000466933.1:n.*5G>C
ENST00000592342.5:c.-284+7365G>C (DNMT1)	ENSP00000465993.1:n.-284+7365G>C
NM_004230.3:c.*5G>C (S1PR2)	NP_004221.3:n.*5G>C
XM_011528425.1:c.894+173G>C (S1PR2)	XP_011526727.1:n.894+173G>C
NM_004230.4:c.*5G>C (S1PR2) MANE Select	NP_004221.3:n.*5G>C