Canonical Allele Identifier: CA10406132
Gene: SLC35A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 810589
ClinVar RCV Id: RCV000999417
dbSNP Id: rs202215716
gnomAD v3: X-48905486-C-T
gnomAD v4: X-48905486-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48905486C>T , CM000685.2:g.48905486C>T GRCh38
NC_000023.10:g.48762763C>T , CM000685.1:g.48762763C>T GRCh37
NC_000023.9:g.48647707C>T NCBI36
NG_034300.1:g.11473G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000247138.11:c.427-4G>A MANE Select ENSP00000247138.5:n.427-4G>A
ENST00000247138.10:c.427-4G>A ENSP00000247138.5:n.427-4G>A
ENST00000376515.8:c.355-594G>A ENSP00000365698.3:n.355-594G>A
ENST00000376521.6:c.427-4G>A ENSP00000365704.1:n.427-4G>A
ENST00000376529.8:c.427-594G>A ENSP00000365712.3:n.427-594G>A
ENST00000413561.7:c.212-227G>A
ENST00000445167.7:c.427-594G>A ENSP00000402726.2:n.427-594G>A
ENST00000446885.1:c.211-4G>A ENSP00000415518.1:n.211-4G>A
ENST00000452555.7:c.511-4G>A ENSP00000416002.2:n.511-4G>A
ENST00000616181.5:c.466-4G>A ENSP00000478617.1:n.466-4G>A
ENST00000634665.1:c.*47-4G>A ENSP00000489356.1:n.*47-4G>A
ENST00000635238.1:c.388-4G>A ENSP00000489515.1:n.388-4G>A
ENST00000635285.1:c.427-4G>A ENSP00000489484.1:n.427-4G>A
ENST00000635460.1:c.424+906G>A
ENST00000635589.1:c.244-4G>A ENSP00000489197.1:n.244-4G>A
ENST00000635628.1:c.*321-4G>A ENSP00000489613.1:n.*321-4G>A
NM_001032289.2:c.427-594G>A NP_001027460.1:n.427-594G>A
NM_001042498.2:c.427-4G>A NP_001035963.1:n.427-4G>A
NM_001282647.1:c.427-594G>A NP_001269576.1:n.427-594G>A
NM_001282648.1:c.355-594G>A NP_001269577.1:n.355-594G>A
NM_001282649.1:c.244-4G>A NP_001269578.1:n.244-4G>A
NM_001282650.1:c.466-4G>A NP_001269579.1:n.466-4G>A
NM_001282651.1:c.511-4G>A NP_001269580.1:n.511-4G>A
NM_005660.2:c.427-4G>A NP_005651.1:n.427-4G>A
NM_005660.3:c.427-4G>A MANE Select NP_005651.1:n.427-4G>A
NM_001032289.3:c.427-594G>A NP_001027460.1:n.427-594G>A
NM_001042498.3:c.427-4G>A NP_001035963.1:n.427-4G>A
NM_001282647.2:c.427-594G>A NP_001269576.1:n.427-594G>A
NM_001282649.2:c.244-4G>A NP_001269578.1:n.244-4G>A
NM_001282650.2:c.466-4G>A NP_001269579.1:n.466-4G>A
NM_001282651.2:c.511-4G>A NP_001269580.1:n.511-4G>A
NM_001282648.2:c.355-594G>A NP_001269577.1:n.355-594G>A