Canonical Allele Identifier: CA16616697

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 412238
• ClinVar RCV Id: RCV000466018 ; RCV000578787
• dbSNP Id: rs1060503677
• gnomAD v2: X-48767086-C-T
• gnomAD v3: X-48909809-C-T
• gnomAD v4: X-48909809-C-T
• MyVariant Identifiers: chrX:g.48767086C>T (hg19) ; chrX:g.48909809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48909809C>T , CM000685.2:g.48909809C>T	GRCh38
NC_000023.10:g.48767086C>T , CM000685.1:g.48767086C>T	GRCh37
NC_000023.9:g.48652030C>T	NCBI36
NG_034300.1:g.7150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.274+5G>A MANE Select	ENSP00000247138.5:n.274+5G>A
ENST00000247138.10:c.274+5G>A	ENSP00000247138.5:n.274+5G>A
ENST00000376512.2:c.274+5G>A	ENSP00000365695.1:n.274+5G>A
ENST00000376515.8:c.202+5G>A	ENSP00000365698.3:n.202+5G>A
ENST00000376521.6:c.274+5G>A	ENSP00000365704.1:n.274+5G>A
ENST00000376529.8:c.274+5G>A	ENSP00000365712.3:n.274+5G>A
ENST00000413561.7:c.59+5G>A
ENST00000445167.7:c.274+5G>A	ENSP00000402726.2:n.274+5G>A
ENST00000446885.1:c.58+5G>A	ENSP00000415518.1:n.58+5G>A
ENST00000452555.7:c.358+5G>A	ENSP00000416002.2:n.358+5G>A
ENST00000616181.5:c.313+5G>A	ENSP00000478617.1:n.313+5G>A
ENST00000634461.1:c.91+1737G>A	ENSP00000489440.1:n.91+1737G>A
ENST00000634665.1:c.274+5G>A	ENSP00000489356.1:n.274+5G>A
ENST00000635015.1:c.313+5G>A	ENSP00000489089.1:n.313+5G>A
ENST00000635238.1:c.235+44G>A	ENSP00000489515.1:n.235+44G>A
ENST00000635285.1:c.274+5G>A	ENSP00000489484.1:n.274+5G>A
ENST00000635460.1:c.272+5G>A
ENST00000635589.1:c.91+1737G>A	ENSP00000489197.1:n.91+1737G>A
ENST00000635628.1:c.*168+5G>A	ENSP00000489613.1:n.*168+5G>A
NM_001032289.2:c.274+5G>A	NP_001027460.1:n.274+5G>A
NM_001042498.2:c.274+5G>A	NP_001035963.1:n.274+5G>A
NM_001282647.1:c.274+5G>A	NP_001269576.1:n.274+5G>A
NM_001282648.1:c.202+5G>A	NP_001269577.1:n.202+5G>A
NM_001282649.1:c.91+1737G>A	NP_001269578.1:n.91+1737G>A
NM_001282650.1:c.313+5G>A	NP_001269579.1:n.313+5G>A
NM_001282651.1:c.358+5G>A	NP_001269580.1:n.358+5G>A
NM_005660.2:c.274+5G>A	NP_005651.1:n.274+5G>A
NM_005660.3:c.274+5G>A MANE Select	NP_005651.1:n.274+5G>A
NM_001032289.3:c.274+5G>A	NP_001027460.1:n.274+5G>A
NM_001042498.3:c.274+5G>A	NP_001035963.1:n.274+5G>A
NM_001282647.2:c.274+5G>A	NP_001269576.1:n.274+5G>A
NM_001282649.2:c.91+1737G>A	NP_001269578.1:n.91+1737G>A
NM_001282650.2:c.313+5G>A	NP_001269579.1:n.313+5G>A
NM_001282651.2:c.358+5G>A	NP_001269580.1:n.358+5G>A
NM_001282648.2:c.202+5G>A	NP_001269577.1:n.202+5G>A