Canonical Allele Identifier: CA9188936

Gene: S1PR2 DNMT1

Linked Data

• dbSNP Id: rs753076607
• ExAC: 19:10334498 GGTT / G
• gnomAD v2: 19-10334498-GGTT-G
• gnomAD v3: 19-10223822-GGTT-G
• gnomAD v4: 19-10223822-GGTT-G
• MyVariant Identifiers: chr19:g.10334499_10334501del (hg19) ; chr19:g.10223824_10223826del (hg38) ; chr19:g.10223823_10223825del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10223827_10223829del , CM000681.2:g.10223827_10223829del	GRCh38
NC_000019.9:g.10334503_10334505del , CM000681.1:g.10334503_10334505del	GRCh37
NC_000019.8:g.10195503_10195505del	NCBI36
NG_028016.3:g.12462_12464del , LRG_362:g.12462_12464del
NG_046802.1:g.12983_12985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646641.1:c.*19_*21del (S1PR2) MANE Select	ENSP00000496438.1:n.*19_*21del
ENST00000588952.5:c.-401-4956_-401-4954del (DNMT1)	ENSP00000467050.1:n.-401-4956_-401-4954del
ENST00000590320.2:c.*19_*21del (S1PR2)	ENSP00000466933.1:n.*19_*21del
ENST00000592342.5:c.-284+7379_-284+7381del (DNMT1)	ENSP00000465993.1:n.-284+7379_-284+7381del
NM_004230.3:c.*19_*21del (S1PR2)	NP_004221.3:n.*19_*21del
XM_011528425.1:c.894+187_894+189del (S1PR2)	XP_011526727.1:n.894+187_894+189del
NM_004230.4:c.*19_*21del (S1PR2) MANE Select	NP_004221.3:n.*19_*21del