Canonical Allele Identifier: CA143742
Gene: SLC35A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50364
dbSNP Id: rs587776961
gnomAD v2: X-48762195-C-T
gnomAD v4: X-48904918-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48904918C>T , CM000685.2:g.48904918C>T GRCh38
NC_000023.10:g.48762195C>T , CM000685.1:g.48762195C>T GRCh37
NC_000023.9:g.48647139C>T NCBI36
NG_015967.1:g.12001C>T
NG_034300.1:g.12041G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000247138.11:c.991G>A MANE Select ENSP00000247138.5:p.Val331Ile
ENST00000247138.10:c.991G>A ENSP00000247138.5:p.Val331Ile
ENST00000376515.8:c.355-26G>A ENSP00000365698.3:n.355-26G>A
ENST00000376521.6:c.991G>A ENSP00000365704.1:p.Val331Ile
ENST00000376529.8:c.427-26G>A ENSP00000365712.3:n.427-26G>A
ENST00000413561.7:c.553G>A
ENST00000445167.7:c.427-26G>A ENSP00000402726.2:n.427-26G>A
ENST00000452555.7:c.1075G>A ENSP00000416002.2:p.Val359Ile
ENST00000616181.5:c.1030G>A ENSP00000478617.1:p.Val344Ile
ENST00000635285.1:c.991G>A ENSP00000489484.1:p.Val331Ile
ENST00000635460.1:c.425-1453G>A
ENST00000635589.1:c.808G>A ENSP00000489197.1:p.Val270Ile
ENST00000635628.1:c.*885G>A ENSP00000489613.1:n.*885G>A
NM_001032289.2:c.427-26G>A NP_001027460.1:n.427-26G>A
NM_001042498.2:c.991G>A NP_001035963.1:p.Val331Ile
NM_001282647.1:c.427-26G>A NP_001269576.1:n.427-26G>A
NM_001282648.1:c.355-26G>A NP_001269577.1:n.355-26G>A
NM_001282649.1:c.808G>A NP_001269578.1:p.Val270Ile
NM_001282650.1:c.1030G>A NP_001269579.1:p.Val344Ile
NM_001282651.1:c.1075G>A NP_001269580.1:p.Val359Ile
NM_005660.2:c.991G>A NP_005651.1:p.Val331Ile
NM_005660.3:c.991G>A MANE Select NP_005651.1:p.Val331Ile
NM_001032289.3:c.427-26G>A NP_001027460.1:n.427-26G>A
NM_001042498.3:c.991G>A NP_001035963.1:p.Val331Ile
NM_001282647.2:c.427-26G>A NP_001269576.1:n.427-26G>A
NM_001282649.2:c.808G>A NP_001269578.1:p.Val270Ile
NM_001282650.2:c.1030G>A NP_001269579.1:p.Val344Ile
NM_001282651.2:c.1075G>A NP_001269580.1:p.Val359Ile
NM_001282648.2:c.355-26G>A NP_001269577.1:n.355-26G>A