Canonical Allele Identifier: CA163126
Gene: SLC35A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135675
ClinVar RCV Id: RCV000122745
dbSNP Id: rs587777435

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48904939del , CM000685.2:g.48904939del GRCh38
NC_000023.10:g.48762216del , CM000685.1:g.48762216del GRCh37
NC_000023.9:g.48647160del NCBI36
NG_015967.1:g.12022del
NG_034300.1:g.12022del

Transcript Alleles

HGVS Amino-acid change
ENST00000247138.11:c.972del MANE Select ENSP00000247138.5:p.Phe324LeufsTer25
ENST00000247138.10:c.972del ENSP00000247138.5:p.Phe324LeufsTer25
ENST00000376515.8:c.355-45del ENSP00000365698.3:n.355-45del
ENST00000376521.6:c.972del ENSP00000365704.1:p.Phe324LeufsTer25
ENST00000376529.8:c.427-45del ENSP00000365712.3:n.427-45del
ENST00000413561.7:c.534del
ENST00000445167.7:c.427-45del ENSP00000402726.2:n.427-45del
ENST00000452555.7:c.1056del ENSP00000416002.2:p.Phe352LeufsTer25
ENST00000616181.5:c.1011del ENSP00000478617.1:p.Phe337LeufsTer25
ENST00000635285.1:c.972del ENSP00000489484.1:p.Phe324LeufsTer25
ENST00000635460.1:c.424+1455del
ENST00000635589.1:c.789del ENSP00000489197.1:p.Phe263LeufsTer25
ENST00000635628.1:c.*866del ENSP00000489613.1:n.*866del
NM_001032289.2:c.427-45del NP_001027460.1:n.427-45del
NM_001042498.2:c.972del NP_001035963.1:p.Phe324LeufsTer25
NM_001282647.1:c.427-45del NP_001269576.1:n.427-45del
NM_001282648.1:c.355-45del NP_001269577.1:n.355-45del
NM_001282649.1:c.789del NP_001269578.1:p.Phe263LeufsTer25
NM_001282650.1:c.1011del NP_001269579.1:p.Phe337LeufsTer25
NM_001282651.1:c.1056del NP_001269580.1:p.Phe352LeufsTer25
NM_005660.2:c.972del NP_005651.1:p.Phe324LeufsTer25
NM_005660.3:c.972del MANE Select NP_005651.1:p.Phe324LeufsTer25
NM_001032289.3:c.427-45del NP_001027460.1:n.427-45del
NM_001042498.3:c.972del NP_001035963.1:p.Phe324LeufsTer25
NM_001282647.2:c.427-45del NP_001269576.1:n.427-45del
NM_001282649.2:c.789del NP_001269578.1:p.Phe263LeufsTer25
NM_001282650.2:c.1011del NP_001269579.1:p.Phe337LeufsTer25
NM_001282651.2:c.1056del NP_001269580.1:p.Phe352LeufsTer25
NM_001282648.2:c.355-45del NP_001269577.1:n.355-45del