Canonical Allele Identifier: CA10406070
Gene: SLC35A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 444804
dbSNP Id: rs781948153
gnomAD v2: X-48762147-C-T
gnomAD v4: X-48904870-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48904870C>T , CM000685.2:g.48904870C>T GRCh38
NC_000023.10:g.48762147C>T , CM000685.1:g.48762147C>T GRCh37
NC_000023.9:g.48647091C>T NCBI36
NG_015967.1:g.11953C>T
NG_034300.1:g.12089G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000247138.11:c.1039G>A MANE Select ENSP00000247138.5:p.Ala347Thr
ENST00000247138.10:c.1039G>A ENSP00000247138.5:p.Ala347Thr
ENST00000376515.8:c.377G>A ENSP00000365698.3:p.Ser126Asn
ENST00000376521.6:c.1039G>A ENSP00000365704.1:p.Ala347Thr
ENST00000376529.8:c.449G>A ENSP00000365712.3:p.Ser150Asn
ENST00000413561.7:c.601G>A
ENST00000445167.7:c.449G>A ENSP00000402726.2:p.Ser150Asn
ENST00000452555.7:c.1123G>A ENSP00000416002.2:p.Ala375Thr
ENST00000616181.5:c.1078G>A ENSP00000478617.1:p.Ala360Thr
ENST00000635285.1:c.1039G>A ENSP00000489484.1:p.Ala347Thr
ENST00000635460.1:c.425-1405G>A
ENST00000635589.1:c.856G>A ENSP00000489197.1:p.Ala286Thr
ENST00000635628.1:c.*933G>A ENSP00000489613.1:n.*933G>A
NM_001032289.2:c.449G>A NP_001027460.1:p.Ser150Asn
NM_001042498.2:c.1039G>A NP_001035963.1:p.Ala347Thr
NM_001282647.1:c.449G>A NP_001269576.1:p.Ser150Asn
NM_001282648.1:c.377G>A NP_001269577.1:p.Ser126Asn
NM_001282649.1:c.856G>A NP_001269578.1:p.Ala286Thr
NM_001282650.1:c.1078G>A NP_001269579.1:p.Ala360Thr
NM_001282651.1:c.1123G>A NP_001269580.1:p.Ala375Thr
NM_005660.2:c.1039G>A NP_005651.1:p.Ala347Thr
NM_005660.3:c.1039G>A MANE Select NP_005651.1:p.Ala347Thr
NM_001032289.3:c.449G>A NP_001027460.1:p.Ser150Asn
NM_001042498.3:c.1039G>A NP_001035963.1:p.Ala347Thr
NM_001282647.2:c.449G>A NP_001269576.1:p.Ser150Asn
NM_001282649.2:c.856G>A NP_001269578.1:p.Ala286Thr
NM_001282650.2:c.1078G>A NP_001269579.1:p.Ala360Thr
NM_001282651.2:c.1123G>A NP_001269580.1:p.Ala375Thr
NM_001282648.2:c.377G>A NP_001269577.1:p.Ser126Asn