Canonical Allele Identifier: CA916083952

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 857712
• ClinVar RCV Id: RCV001063440
• dbSNP Id: rs2063477918

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904962_48904963del , CM000685.2:g.48904962_48904963del	GRCh38
NC_000023.10:g.48762239_48762240del , CM000685.1:g.48762239_48762240del	GRCh37
NC_000023.9:g.48647183_48647184del	NCBI36
NG_015967.1:g.12045_12046del
NG_034300.1:g.11997_11998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.947_948del MANE Select	ENSP00000247138.5:p.Phe316TrpfsTer?
ENST00000247138.10:c.947_948del	ENSP00000247138.5:p.Phe316TrpfsTer?
ENST00000376515.8:c.355-70_355-69del	ENSP00000365698.3:n.355-70_355-69del
ENST00000376521.6:c.947_948del	ENSP00000365704.1:p.Phe316TrpfsTer?
ENST00000376529.8:c.427-70_427-69del	ENSP00000365712.3:n.427-70_427-69del
ENST00000413561.7:c.509_510del
ENST00000445167.7:c.427-70_427-69del	ENSP00000402726.2:n.427-70_427-69del
ENST00000452555.7:c.1031_1032del	ENSP00000416002.2:p.Phe344TrpfsTer?
ENST00000616181.5:c.986_987del	ENSP00000478617.1:p.Phe329TrpfsTer?
ENST00000635285.1:c.947_948del	ENSP00000489484.1:p.Phe316TrpfsTer?
ENST00000635460.1:c.424+1430_424+1431del
ENST00000635589.1:c.764_765del	ENSP00000489197.1:p.Phe255TrpfsTer?
ENST00000635628.1:c.*841_*842del	ENSP00000489613.1:n.*841_*842del
NM_001032289.2:c.427-70_427-69del	NP_001027460.1:n.427-70_427-69del
NM_001042498.2:c.947_948del	NP_001035963.1:p.Phe316TrpfsTer?
NM_001282647.1:c.427-70_427-69del	NP_001269576.1:n.427-70_427-69del
NM_001282648.1:c.355-70_355-69del	NP_001269577.1:n.355-70_355-69del
NM_001282649.1:c.764_765del	NP_001269578.1:p.Phe255TrpfsTer?
NM_001282650.1:c.986_987del	NP_001269579.1:p.Phe329TrpfsTer?
NM_001282651.1:c.1031_1032del	NP_001269580.1:p.Phe344TrpfsTer?
NM_005660.2:c.947_948del	NP_005651.1:p.Phe316TrpfsTer?
NM_005660.3:c.947_948del MANE Select	NP_005651.1:p.Phe316TrpfsTer?
NM_001032289.3:c.427-70_427-69del	NP_001027460.1:n.427-70_427-69del
NM_001042498.3:c.947_948del	NP_001035963.1:p.Phe316TrpfsTer?
NM_001282647.2:c.427-70_427-69del	NP_001269576.1:n.427-70_427-69del
NM_001282649.2:c.764_765del	NP_001269578.1:p.Phe255TrpfsTer?
NM_001282650.2:c.986_987del	NP_001269579.1:p.Phe329TrpfsTer?
NM_001282651.2:c.1031_1032del	NP_001269580.1:p.Phe344TrpfsTer?
NM_001282648.2:c.355-70_355-69del	NP_001269577.1:n.355-70_355-69del