Canonical Allele Identifier: CA10406131

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 1088454
• ClinVar RCV Id: RCV001406949
• dbSNP Id: rs782086267
• ExAC: X:48762757 C / T
• gnomAD v2: X-48762757-C-T
• gnomAD v3: X-48905480-C-T
• gnomAD v4: X-48905480-C-T
• MyVariant Identifiers: chrX:g.48762757C>T (hg19) ; chrX:g.48905480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905480C>T , CM000685.2:g.48905480C>T	GRCh38
NC_000023.10:g.48762757C>T , CM000685.1:g.48762757C>T	GRCh37
NC_000023.9:g.48647701C>T	NCBI36
NG_034300.1:g.11479G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.429G>A MANE Select	ENSP00000247138.5:p.Val143=
ENST00000247138.10:c.429G>A	ENSP00000247138.5:p.Val143=
ENST00000376515.8:c.355-588G>A	ENSP00000365698.3:n.355-588G>A
ENST00000376521.6:c.429G>A	ENSP00000365704.1:p.Val143=
ENST00000376529.8:c.427-588G>A	ENSP00000365712.3:n.427-588G>A
ENST00000413561.7:c.212-221G>A
ENST00000445167.7:c.427-588G>A	ENSP00000402726.2:n.427-588G>A
ENST00000446885.1:c.213G>A	ENSP00000415518.1:p.Val71=
ENST00000452555.7:c.513G>A	ENSP00000416002.2:p.Val171=
ENST00000616181.5:c.468G>A	ENSP00000478617.1:p.Val156=
ENST00000634665.1:c.*49G>A	ENSP00000489356.1:n.*49G>A
ENST00000635238.1:c.390G>A	ENSP00000489515.1:p.Val130=
ENST00000635285.1:c.429G>A	ENSP00000489484.1:p.Val143=
ENST00000635460.1:c.424+912G>A
ENST00000635589.1:c.246G>A	ENSP00000489197.1:p.Val82=
ENST00000635628.1:c.*323G>A	ENSP00000489613.1:n.*323G>A
NM_001032289.2:c.427-588G>A	NP_001027460.1:n.427-588G>A
NM_001042498.2:c.429G>A	NP_001035963.1:p.Val143=
NM_001282647.1:c.427-588G>A	NP_001269576.1:n.427-588G>A
NM_001282648.1:c.355-588G>A	NP_001269577.1:n.355-588G>A
NM_001282649.1:c.246G>A	NP_001269578.1:p.Val82=
NM_001282650.1:c.468G>A	NP_001269579.1:p.Val156=
NM_001282651.1:c.513G>A	NP_001269580.1:p.Val171=
NM_005660.2:c.429G>A	NP_005651.1:p.Val143=
NM_005660.3:c.429G>A MANE Select	NP_005651.1:p.Val143=
NM_001032289.3:c.427-588G>A	NP_001027460.1:n.427-588G>A
NM_001042498.3:c.429G>A	NP_001035963.1:p.Val143=
NM_001282647.2:c.427-588G>A	NP_001269576.1:n.427-588G>A
NM_001282649.2:c.246G>A	NP_001269578.1:p.Val82=
NM_001282650.2:c.468G>A	NP_001269579.1:p.Val156=
NM_001282651.2:c.513G>A	NP_001269580.1:p.Val171=
NM_001282648.2:c.355-588G>A	NP_001269577.1:n.355-588G>A