Canonical Allele Identifier: CA16043709
Gene: SLC35A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374354
ClinVar RCV Id: RCV000415221
dbSNP Id: rs1057518719

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48905289_48905292del , CM000685.2:g.48905289_48905292del GRCh38
NC_000023.10:g.48762566_48762569del , CM000685.1:g.48762566_48762569del GRCh37
NC_000023.9:g.48647510_48647513del NCBI36
NG_034300.1:g.11667_11670del

Transcript Alleles

HGVS Amino-acid change
ENST00000247138.11:c.617_620del MANE Select ENSP00000247138.5:p.Val206GlyfsTer?
ENST00000247138.10:c.617_620del ENSP00000247138.5:p.Val206GlyfsTer?
ENST00000376515.8:c.355-400_355-397del ENSP00000365698.3:n.355-400_355-397del
ENST00000376521.6:c.617_620del ENSP00000365704.1:p.Val206GlyfsTer?
ENST00000376529.8:c.427-400_427-397del ENSP00000365712.3:n.427-400_427-397del
ENST00000413561.7:c.212-33_212-30del
ENST00000445167.7:c.427-400_427-397del ENSP00000402726.2:n.427-400_427-397del
ENST00000446885.1:c.401_404del ENSP00000415518.1:p.Val134GlyfsTer?
ENST00000452555.7:c.701_704del ENSP00000416002.2:p.Val234GlyfsTer?
ENST00000616181.5:c.656_659del ENSP00000478617.1:p.Val219GlyfsTer?
ENST00000635285.1:c.617_620del ENSP00000489484.1:p.Val206GlyfsTer?
ENST00000635460.1:c.424+1100_424+1103del
ENST00000635589.1:c.434_437del ENSP00000489197.1:p.Val145GlyfsTer?
ENST00000635628.1:c.*511_*514del ENSP00000489613.1:n.*511_*514del
NM_001032289.2:c.427-400_427-397del NP_001027460.1:n.427-400_427-397del
NM_001042498.2:c.617_620del NP_001035963.1:p.Val206GlyfsTer?
NM_001282647.1:c.427-400_427-397del NP_001269576.1:n.427-400_427-397del
NM_001282648.1:c.355-400_355-397del NP_001269577.1:n.355-400_355-397del
NM_001282649.1:c.434_437del NP_001269578.1:p.Val145GlyfsTer?
NM_001282650.1:c.656_659del NP_001269579.1:p.Val219GlyfsTer?
NM_001282651.1:c.701_704del NP_001269580.1:p.Val234GlyfsTer?
NM_005660.2:c.617_620del NP_005651.1:p.Val206GlyfsTer?
NM_005660.3:c.617_620del MANE Select NP_005651.1:p.Val206GlyfsTer?
NM_001032289.3:c.427-400_427-397del NP_001027460.1:n.427-400_427-397del
NM_001042498.3:c.617_620del NP_001035963.1:p.Val206GlyfsTer?
NM_001282647.2:c.427-400_427-397del NP_001269576.1:n.427-400_427-397del
NM_001282649.2:c.434_437del NP_001269578.1:p.Val145GlyfsTer?
NM_001282650.2:c.656_659del NP_001269579.1:p.Val219GlyfsTer?
NM_001282651.2:c.701_704del NP_001269580.1:p.Val234GlyfsTer?
NM_001282648.2:c.355-400_355-397del NP_001269577.1:n.355-400_355-397del