Canonical Allele Identifier: CA9188952

Gene: S1PR2 DNMT1

Linked Data

• dbSNP Id: rs772259151
• ExAC: 19:10334568 C / T
• gnomAD v2: 19-10334568-C-T
• gnomAD v4: 19-10223892-C-T
• MyVariant Identifiers: chr19:g.10334568C>T (hg19) ; chr19:g.10223892C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10223892C>T , CM000681.2:g.10223892C>T	GRCh38
NC_000019.9:g.10334568C>T , CM000681.1:g.10334568C>T	GRCh37
NC_000019.8:g.10195568C>T	NCBI36
NG_028016.3:g.12395G>A , LRG_362:g.12395G>A
NG_046802.1:g.12916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646641.1:c.1014G>A (S1PR2) MANE Select	ENSP00000496438.1:p.Met338Ile
ENST00000588952.5:c.-401-5023G>A (DNMT1)	ENSP00000467050.1:n.-401-5023G>A
ENST00000590320.2:c.1014G>A (S1PR2)	ENSP00000466933.1:p.Met338Ile
ENST00000592342.5:c.-284+7312G>A (DNMT1)	ENSP00000465993.1:n.-284+7312G>A
NM_004230.3:c.1014G>A (S1PR2)	NP_004221.3:p.Met338Ile
XM_011528425.1:c.894+120G>A (S1PR2)	XP_011526727.1:n.894+120G>A
NM_004230.4:c.1014G>A (S1PR2) MANE Select	NP_004221.3:p.Met338Ile