Canonical Allele Identifier: CA10406092

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 282611
• ClinVar RCV Id: RCV000377201 ; RCV002429215 ; RCV002521886
• dbSNP Id: rs782737391
• ExAC: X:48762360 G / A
• gnomAD v2: X-48762360-G-A
• gnomAD v3: X-48905083-G-A
• gnomAD v4: X-48905083-G-A
• MyVariant Identifiers: chrX:g.48762360G>A (hg19) ; chrX:g.48905083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905083G>A , CM000685.2:g.48905083G>A	GRCh38
NC_000023.10:g.48762360G>A , CM000685.1:g.48762360G>A	GRCh37
NC_000023.9:g.48647304G>A	NCBI36
NG_015967.1:g.12166G>A
NG_034300.1:g.11876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.826C>T MANE Select	ENSP00000247138.5:p.Leu276Phe
ENST00000247138.10:c.826C>T	ENSP00000247138.5:p.Leu276Phe
ENST00000376515.8:c.355-191C>T	ENSP00000365698.3:n.355-191C>T
ENST00000376521.6:c.826C>T	ENSP00000365704.1:p.Leu276Phe
ENST00000376529.8:c.427-191C>T	ENSP00000365712.3:n.427-191C>T
ENST00000413561.7:c.388C>T
ENST00000445167.7:c.427-191C>T	ENSP00000402726.2:n.427-191C>T
ENST00000452555.7:c.910C>T	ENSP00000416002.2:p.Leu304Phe
ENST00000616181.5:c.865C>T	ENSP00000478617.1:p.Leu289Phe
ENST00000635285.1:c.826C>T	ENSP00000489484.1:p.Leu276Phe
ENST00000635460.1:c.424+1309C>T
ENST00000635589.1:c.643C>T	ENSP00000489197.1:p.Leu215Phe
ENST00000635628.1:c.*720C>T	ENSP00000489613.1:n.*720C>T
NM_001032289.2:c.427-191C>T	NP_001027460.1:n.427-191C>T
NM_001042498.2:c.826C>T	NP_001035963.1:p.Leu276Phe
NM_001282647.1:c.427-191C>T	NP_001269576.1:n.427-191C>T
NM_001282648.1:c.355-191C>T	NP_001269577.1:n.355-191C>T
NM_001282649.1:c.643C>T	NP_001269578.1:p.Leu215Phe
NM_001282650.1:c.865C>T	NP_001269579.1:p.Leu289Phe
NM_001282651.1:c.910C>T	NP_001269580.1:p.Leu304Phe
NM_005660.2:c.826C>T	NP_005651.1:p.Leu276Phe
NM_005660.3:c.826C>T MANE Select	NP_005651.1:p.Leu276Phe
NM_001032289.3:c.427-191C>T	NP_001027460.1:n.427-191C>T
NM_001042498.3:c.826C>T	NP_001035963.1:p.Leu276Phe
NM_001282647.2:c.427-191C>T	NP_001269576.1:n.427-191C>T
NM_001282649.2:c.643C>T	NP_001269578.1:p.Leu215Phe
NM_001282650.2:c.865C>T	NP_001269579.1:p.Leu289Phe
NM_001282651.2:c.910C>T	NP_001269580.1:p.Leu304Phe
NM_001282648.2:c.355-191C>T	NP_001269577.1:n.355-191C>T