Canonical Allele Identifier: CA329098725

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 956333
• ClinVar RCV Id: RCV001229116
• dbSNP Id: rs920606773
• gnomAD v2: X-48762245-C-T
• gnomAD v3: X-48904968-C-T
• gnomAD v4: X-48904968-C-T
• MyVariant Identifiers: chrX:g.48762245C>T (hg19) ; chrX:g.48904968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904968C>T , CM000685.2:g.48904968C>T	GRCh38
NC_000023.10:g.48762245C>T , CM000685.1:g.48762245C>T	GRCh37
NC_000023.9:g.48647189C>T	NCBI36
NG_015967.1:g.12051C>T
NG_034300.1:g.11991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.941G>A MANE Select	ENSP00000247138.5:p.Arg314His
ENST00000247138.10:c.941G>A	ENSP00000247138.5:p.Arg314His
ENST00000376515.8:c.355-76G>A	ENSP00000365698.3:n.355-76G>A
ENST00000376521.6:c.941G>A	ENSP00000365704.1:p.Arg314His
ENST00000376529.8:c.427-76G>A	ENSP00000365712.3:n.427-76G>A
ENST00000413561.7:c.503G>A
ENST00000445167.7:c.427-76G>A	ENSP00000402726.2:n.427-76G>A
ENST00000452555.7:c.1025G>A	ENSP00000416002.2:p.Arg342His
ENST00000616181.5:c.980G>A	ENSP00000478617.1:p.Arg327His
ENST00000635285.1:c.941G>A	ENSP00000489484.1:p.Arg314His
ENST00000635460.1:c.424+1424G>A
ENST00000635589.1:c.758G>A	ENSP00000489197.1:p.Arg253His
ENST00000635628.1:c.*835G>A	ENSP00000489613.1:n.*835G>A
NM_001032289.2:c.427-76G>A	NP_001027460.1:n.427-76G>A
NM_001042498.2:c.941G>A	NP_001035963.1:p.Arg314His
NM_001282647.1:c.427-76G>A	NP_001269576.1:n.427-76G>A
NM_001282648.1:c.355-76G>A	NP_001269577.1:n.355-76G>A
NM_001282649.1:c.758G>A	NP_001269578.1:p.Arg253His
NM_001282650.1:c.980G>A	NP_001269579.1:p.Arg327His
NM_001282651.1:c.1025G>A	NP_001269580.1:p.Arg342His
NM_005660.2:c.941G>A	NP_005651.1:p.Arg314His
NM_005660.3:c.941G>A MANE Select	NP_005651.1:p.Arg314His
NM_001032289.3:c.427-76G>A	NP_001027460.1:n.427-76G>A
NM_001042498.3:c.941G>A	NP_001035963.1:p.Arg314His
NM_001282647.2:c.427-76G>A	NP_001269576.1:n.427-76G>A
NM_001282649.2:c.758G>A	NP_001269578.1:p.Arg253His
NM_001282650.2:c.980G>A	NP_001269579.1:p.Arg327His
NM_001282651.2:c.1025G>A	NP_001269580.1:p.Arg342His
NM_001282648.2:c.355-76G>A	NP_001269577.1:n.355-76G>A