Canonical Allele Identifier: CA783165949

Gene: S1PR2 DNMT1

Linked Data

• dbSNP Id: rs1440625563
• gnomAD v3: 19-10223777-T-TG
• gnomAD v4: 19-10223777-T-TG
• MyVariant Identifiers: chr19:g.10334453_10334454insG (hg19) ; chr19:g.10223777_10223778insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10223781dup , CM000681.2:g.10223781dup	GRCh38
NC_000019.9:g.10334457dup , CM000681.1:g.10334457dup	GRCh37
NC_000019.8:g.10195457dup	NCBI36
NG_028016.3:g.12509dup , LRG_362:g.12509dup
NG_046802.1:g.13030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646641.1:c.*66dup (S1PR2) MANE Select	ENSP00000496438.1:n.*66dup
ENST00000588952.5:c.-401-4909dup (DNMT1)	ENSP00000467050.1:n.-401-4909dup
ENST00000590320.2:c.*66dup (S1PR2)	ENSP00000466933.1:n.*66dup
ENST00000592342.5:c.-284+7426dup (DNMT1)	ENSP00000465993.1:n.-284+7426dup
NM_004230.3:c.*66dup (S1PR2)	NP_004221.3:n.*66dup
XM_011528425.1:c.894+234dup (S1PR2)	XP_011526727.1:n.894+234dup
NM_004230.4:c.*66dup (S1PR2) MANE Select	NP_004221.3:n.*66dup