Canonical Allele Identifier: CA915951105

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 803994
• ClinVar RCV Id: RCV000990814
• dbSNP Id: rs1602338996

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905387_48905389del , CM000685.2:g.48905387_48905389del	GRCh38
NC_000023.10:g.48762664_48762666del , CM000685.1:g.48762664_48762666del	GRCh37
NC_000023.9:g.48647608_48647610del	NCBI36
NG_034300.1:g.11573_11575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.523_525del MANE Select	ENSP00000247138.5:p.Leu175del
ENST00000247138.10:c.523_525del	ENSP00000247138.5:p.Leu175del
ENST00000376515.8:c.355-494_355-492del	ENSP00000365698.3:n.355-494_355-492del
ENST00000376521.6:c.523_525del	ENSP00000365704.1:p.Leu175del
ENST00000376529.8:c.427-494_427-492del	ENSP00000365712.3:n.427-494_427-492del
ENST00000413561.7:c.212-127_212-125del
ENST00000445167.7:c.427-494_427-492del	ENSP00000402726.2:n.427-494_427-492del
ENST00000446885.1:c.307_309del	ENSP00000415518.1:p.Leu103del
ENST00000452555.7:c.607_609del	ENSP00000416002.2:p.Leu203del
ENST00000616181.5:c.562_564del	ENSP00000478617.1:p.Leu188del
ENST00000635238.1:c.484_486del	ENSP00000489515.1:p.Leu162del
ENST00000635285.1:c.523_525del	ENSP00000489484.1:p.Leu175del
ENST00000635460.1:c.424+1006_424+1008del
ENST00000635589.1:c.340_342del	ENSP00000489197.1:p.Leu114del
ENST00000635628.1:c.*417_*419del	ENSP00000489613.1:n.*417_*419del
NM_001032289.2:c.427-494_427-492del	NP_001027460.1:n.427-494_427-492del
NM_001042498.2:c.523_525del	NP_001035963.1:p.Leu175del
NM_001282647.1:c.427-494_427-492del	NP_001269576.1:n.427-494_427-492del
NM_001282648.1:c.355-494_355-492del	NP_001269577.1:n.355-494_355-492del
NM_001282649.1:c.340_342del	NP_001269578.1:p.Leu114del
NM_001282650.1:c.562_564del	NP_001269579.1:p.Leu188del
NM_001282651.1:c.607_609del	NP_001269580.1:p.Leu203del
NM_005660.2:c.523_525del	NP_005651.1:p.Leu175del
NM_005660.3:c.523_525del MANE Select	NP_005651.1:p.Leu175del
NM_001032289.3:c.427-494_427-492del	NP_001027460.1:n.427-494_427-492del
NM_001042498.3:c.523_525del	NP_001035963.1:p.Leu175del
NM_001282647.2:c.427-494_427-492del	NP_001269576.1:n.427-494_427-492del
NM_001282649.2:c.340_342del	NP_001269578.1:p.Leu114del
NM_001282650.2:c.562_564del	NP_001269579.1:p.Leu188del
NM_001282651.2:c.607_609del	NP_001269580.1:p.Leu203del
NM_001282648.2:c.355-494_355-492del	NP_001269577.1:n.355-494_355-492del