Canonical Allele Identifier: CA16043639
Gene: SLC35A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374238
ClinVar RCV Id: RCV000415123
dbSNP Id: rs1057519000

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48905403_48905412del , CM000685.2:g.48905403_48905412del GRCh38
NC_000023.10:g.48762680_48762689del , CM000685.1:g.48762680_48762689del GRCh37
NC_000023.9:g.48647624_48647633del NCBI36
NG_034300.1:g.11550_11559del

Transcript Alleles

HGVS Amino-acid change
ENST00000247138.11:c.500_509del MANE Select ENSP00000247138.5:p.Leu167ProfsTer?
ENST00000247138.10:c.500_509del ENSP00000247138.5:p.Leu167ProfsTer?
ENST00000376515.8:c.355-517_355-508del ENSP00000365698.3:n.355-517_355-508del
ENST00000376521.6:c.500_509del ENSP00000365704.1:p.Leu167ProfsTer?
ENST00000376529.8:c.427-517_427-508del ENSP00000365712.3:n.427-517_427-508del
ENST00000413561.7:c.212-150_212-141del
ENST00000445167.7:c.427-517_427-508del ENSP00000402726.2:n.427-517_427-508del
ENST00000446885.1:c.284_293del ENSP00000415518.1:p.Leu95ProfsTer?
ENST00000452555.7:c.584_593del ENSP00000416002.2:p.Leu195ProfsTer?
ENST00000616181.5:c.539_548del ENSP00000478617.1:p.Leu180ProfsTer?
ENST00000634665.1:c.*120_*129del ENSP00000489356.1:n.*120_*129del
ENST00000635238.1:c.461_470del ENSP00000489515.1:p.Leu154ProfsTer?
ENST00000635285.1:c.500_509del ENSP00000489484.1:p.Leu167ProfsTer?
ENST00000635460.1:c.424+983_424+992del
ENST00000635589.1:c.317_326del ENSP00000489197.1:p.Leu106ProfsTer?
ENST00000635628.1:c.*394_*403del ENSP00000489613.1:n.*394_*403del
NM_001032289.2:c.427-517_427-508del NP_001027460.1:n.427-517_427-508del
NM_001042498.2:c.500_509del NP_001035963.1:p.Leu167ProfsTer?
NM_001282647.1:c.427-517_427-508del NP_001269576.1:n.427-517_427-508del
NM_001282648.1:c.355-517_355-508del NP_001269577.1:n.355-517_355-508del
NM_001282649.1:c.317_326del NP_001269578.1:p.Leu106ProfsTer?
NM_001282650.1:c.539_548del NP_001269579.1:p.Leu180ProfsTer?
NM_001282651.1:c.584_593del NP_001269580.1:p.Leu195ProfsTer?
NM_005660.2:c.500_509del NP_005651.1:p.Leu167ProfsTer?
NM_005660.3:c.500_509del MANE Select NP_005651.1:p.Leu167ProfsTer?
NM_001032289.3:c.427-517_427-508del NP_001027460.1:n.427-517_427-508del
NM_001042498.3:c.500_509del NP_001035963.1:p.Leu167ProfsTer?
NM_001282647.2:c.427-517_427-508del NP_001269576.1:n.427-517_427-508del
NM_001282649.2:c.317_326del NP_001269578.1:p.Leu106ProfsTer?
NM_001282650.2:c.539_548del NP_001269579.1:p.Leu180ProfsTer?
NM_001282651.2:c.584_593del NP_001269580.1:p.Leu195ProfsTer?
NM_001282648.2:c.355-517_355-508del NP_001269577.1:n.355-517_355-508del