Canonical Allele Identifier: CA412897640

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 453301
• ClinVar RCV Id: RCV000560194
• dbSNP Id: rs1557043622
• MyVariant Identifiers: chrX:g.48767120C>A (hg19) ; chrX:g.48909843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48909843C>A , CM000685.2:g.48909843C>A	GRCh38
NC_000023.10:g.48767120C>A , CM000685.1:g.48767120C>A	GRCh37
NC_000023.9:g.48652064C>A	NCBI36
NG_034300.1:g.7116G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.245G>T MANE Select	ENSP00000247138.5:p.Cys82Phe
ENST00000247138.10:c.245G>T	ENSP00000247138.5:p.Cys82Phe
ENST00000376512.2:c.245G>T	ENSP00000365695.1:p.Cys82Phe
ENST00000376515.8:c.173G>T	ENSP00000365698.3:p.Cys58Phe
ENST00000376521.6:c.245G>T	ENSP00000365704.1:p.Cys82Phe
ENST00000376529.8:c.245G>T	ENSP00000365712.3:p.Cys82Phe
ENST00000413561.7:c.30G>T
ENST00000445167.7:c.245G>T	ENSP00000402726.2:p.Cys82Phe
ENST00000446885.1:c.29G>T	ENSP00000415518.1:p.Cys10Phe
ENST00000452555.7:c.329G>T	ENSP00000416002.2:p.Cys110Phe
ENST00000616181.5:c.284G>T	ENSP00000478617.1:p.Cys95Phe
ENST00000634461.1:c.91+1703G>T	ENSP00000489440.1:n.91+1703G>T
ENST00000634665.1:c.245G>T	ENSP00000489356.1:p.Cys82Phe
ENST00000635015.1:c.284G>T	ENSP00000489089.1:p.Cys95Phe
ENST00000635238.1:c.235+10G>T	ENSP00000489515.1:n.235+10G>T
ENST00000635285.1:c.245G>T	ENSP00000489484.1:p.Cys82Phe
ENST00000635460.1:c.243G>T
ENST00000635589.1:c.91+1703G>T	ENSP00000489197.1:n.91+1703G>T
ENST00000635628.1:c.*139G>T	ENSP00000489613.1:n.*139G>T
NM_001032289.2:c.245G>T	NP_001027460.1:p.Cys82Phe
NM_001042498.2:c.245G>T	NP_001035963.1:p.Cys82Phe
NM_001282647.1:c.245G>T	NP_001269576.1:p.Cys82Phe
NM_001282648.1:c.173G>T	NP_001269577.1:p.Cys58Phe
NM_001282649.1:c.91+1703G>T	NP_001269578.1:n.91+1703G>T
NM_001282650.1:c.284G>T	NP_001269579.1:p.Cys95Phe
NM_001282651.1:c.329G>T	NP_001269580.1:p.Cys110Phe
NM_005660.2:c.245G>T	NP_005651.1:p.Cys82Phe
NM_005660.3:c.245G>T MANE Select	NP_005651.1:p.Cys82Phe
NM_001032289.3:c.245G>T	NP_001027460.1:p.Cys82Phe
NM_001042498.3:c.245G>T	NP_001035963.1:p.Cys82Phe
NM_001282647.2:c.245G>T	NP_001269576.1:p.Cys82Phe
NM_001282649.2:c.91+1703G>T	NP_001269578.1:n.91+1703G>T
NM_001282650.2:c.284G>T	NP_001269579.1:p.Cys95Phe
NM_001282651.2:c.329G>T	NP_001269580.1:p.Cys110Phe
NM_001282648.2:c.173G>T	NP_001269577.1:p.Cys58Phe