Canonical Allele Identifier: CA2588335912

Gene: S1PR2 DNMT1

Linked Data

• gnomAD v4: 19-10224304-A-ATGATGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10224305_10224312dup , CM000681.2:g.10224305_10224312dup	GRCh38
NC_000019.9:g.10334981_10334988dup , CM000681.1:g.10334981_10334988dup	GRCh37
NC_000019.8:g.10195981_10195988dup	NCBI36
NG_028016.3:g.11975_11982dup , LRG_362:g.11975_11982dup
NG_046802.1:g.12496_12503dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000646641.1:c.594_601dup (S1PR2) MANE Select	ENSP00000496438.1:p.Ile201ThrfsTer32
ENST00000588952.5:c.-401-5443_-401-5436dup (DNMT1)	ENSP00000467050.1:n.-401-5443_-401-5436dup
ENST00000590320.2:c.594_601dup (S1PR2)	ENSP00000466933.1:p.Ile201ThrfsTer32
ENST00000592342.5:c.-284+6892_-284+6899dup (DNMT1)	ENSP00000465993.1:n.-284+6892_-284+6899dup
NM_004230.3:c.594_601dup (S1PR2)	NP_004221.3:p.Ile201ThrfsTer32
XM_011528425.1:c.594_601dup (S1PR2)	XP_011526727.1:p.Ile201ThrfsTer32
NM_004230.4:c.594_601dup (S1PR2) MANE Select	NP_004221.3:p.Ile201ThrfsTer32