Canonical Allele Identifier: CA357924

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 224808
• ClinVar RCV Id: RCV000210405
• dbSNP Id: rs869312860
• MyVariant Identifiers: chrX:g.48762386T>C (hg19) ; chrX:g.48905109T>C (hg38)
• PubMed: PMID:26350515 ; PMID:27479843

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905109T>C , CM000685.2:g.48905109T>C	GRCh38
NC_000023.10:g.48762386T>C , CM000685.1:g.48762386T>C	GRCh37
NC_000023.9:g.48647330T>C	NCBI36
NG_015967.1:g.12192T>C
NG_034300.1:g.11850A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.800A>G MANE Select	ENSP00000247138.5:p.Tyr267Cys
ENST00000247138.10:c.800A>G	ENSP00000247138.5:p.Tyr267Cys
ENST00000376515.8:c.355-217A>G	ENSP00000365698.3:n.355-217A>G
ENST00000376521.6:c.800A>G	ENSP00000365704.1:p.Tyr267Cys
ENST00000376529.8:c.427-217A>G	ENSP00000365712.3:n.427-217A>G
ENST00000413561.7:c.362A>G
ENST00000445167.7:c.427-217A>G	ENSP00000402726.2:n.427-217A>G
ENST00000452555.7:c.884A>G	ENSP00000416002.2:p.Tyr295Cys
ENST00000616181.5:c.839A>G	ENSP00000478617.1:p.Tyr280Cys
ENST00000635285.1:c.800A>G	ENSP00000489484.1:p.Tyr267Cys
ENST00000635460.1:c.424+1283A>G
ENST00000635589.1:c.617A>G	ENSP00000489197.1:p.Tyr206Cys
ENST00000635628.1:c.*694A>G	ENSP00000489613.1:n.*694A>G
NM_001032289.2:c.427-217A>G	NP_001027460.1:n.427-217A>G
NM_001042498.2:c.800A>G	NP_001035963.1:p.Tyr267Cys
NM_001282647.1:c.427-217A>G	NP_001269576.1:n.427-217A>G
NM_001282648.1:c.355-217A>G	NP_001269577.1:n.355-217A>G
NM_001282649.1:c.617A>G	NP_001269578.1:p.Tyr206Cys
NM_001282650.1:c.839A>G	NP_001269579.1:p.Tyr280Cys
NM_001282651.1:c.884A>G	NP_001269580.1:p.Tyr295Cys
NM_005660.2:c.800A>G	NP_005651.1:p.Tyr267Cys
NM_005660.3:c.800A>G MANE Select	NP_005651.1:p.Tyr267Cys
NM_001032289.3:c.427-217A>G	NP_001027460.1:n.427-217A>G
NM_001042498.3:c.800A>G	NP_001035963.1:p.Tyr267Cys
NM_001282647.2:c.427-217A>G	NP_001269576.1:n.427-217A>G
NM_001282649.2:c.617A>G	NP_001269578.1:p.Tyr206Cys
NM_001282650.2:c.839A>G	NP_001269579.1:p.Tyr280Cys
NM_001282651.2:c.884A>G	NP_001269580.1:p.Tyr295Cys
NM_001282648.2:c.355-217A>G	NP_001269577.1:n.355-217A>G