Canonical Allele Identifier: CA10406080

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 1578345
• ClinVar RCV Id: RCV002090552
• dbSNP Id: rs140079332
• ExAC: X:48762228 C / T
• gnomAD v2: X-48762228-C-T
• gnomAD v3: X-48904951-C-T
• gnomAD v4: X-48904951-C-T
• COSMIC: COSM3379640
• MyVariant Identifiers: chrX:g.48762228C>T (hg19) ; chrX:g.48904951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904951C>T , CM000685.2:g.48904951C>T	GRCh38
NC_000023.10:g.48762228C>T , CM000685.1:g.48762228C>T	GRCh37
NC_000023.9:g.48647172C>T	NCBI36
NG_015967.1:g.12034C>T
NG_034300.1:g.12008G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.958G>A MANE Select	ENSP00000247138.5:p.Val320Met
ENST00000247138.10:c.958G>A	ENSP00000247138.5:p.Val320Met
ENST00000376515.8:c.355-59G>A	ENSP00000365698.3:n.355-59G>A
ENST00000376521.6:c.958G>A	ENSP00000365704.1:p.Val320Met
ENST00000376529.8:c.427-59G>A	ENSP00000365712.3:n.427-59G>A
ENST00000413561.7:c.520G>A
ENST00000445167.7:c.427-59G>A	ENSP00000402726.2:n.427-59G>A
ENST00000452555.7:c.1042G>A	ENSP00000416002.2:p.Val348Met
ENST00000616181.5:c.997G>A	ENSP00000478617.1:p.Val333Met
ENST00000635285.1:c.958G>A	ENSP00000489484.1:p.Val320Met
ENST00000635460.1:c.424+1441G>A
ENST00000635589.1:c.775G>A	ENSP00000489197.1:p.Val259Met
ENST00000635628.1:c.*852G>A	ENSP00000489613.1:n.*852G>A
NM_001032289.2:c.427-59G>A	NP_001027460.1:n.427-59G>A
NM_001042498.2:c.958G>A	NP_001035963.1:p.Val320Met
NM_001282647.1:c.427-59G>A	NP_001269576.1:n.427-59G>A
NM_001282648.1:c.355-59G>A	NP_001269577.1:n.355-59G>A
NM_001282649.1:c.775G>A	NP_001269578.1:p.Val259Met
NM_001282650.1:c.997G>A	NP_001269579.1:p.Val333Met
NM_001282651.1:c.1042G>A	NP_001269580.1:p.Val348Met
NM_005660.2:c.958G>A	NP_005651.1:p.Val320Met
NM_005660.3:c.958G>A MANE Select	NP_005651.1:p.Val320Met
NM_001032289.3:c.427-59G>A	NP_001027460.1:n.427-59G>A
NM_001042498.3:c.958G>A	NP_001035963.1:p.Val320Met
NM_001282647.2:c.427-59G>A	NP_001269576.1:n.427-59G>A
NM_001282649.2:c.775G>A	NP_001269578.1:p.Val259Met
NM_001282650.2:c.997G>A	NP_001269579.1:p.Val333Met
NM_001282651.2:c.1042G>A	NP_001269580.1:p.Val348Met
NM_001282648.2:c.355-59G>A	NP_001269577.1:n.355-59G>A