Canonical Allele Identifier: CA143744
Gene: SLC35A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50365
ClinVar RCV Id: RCV000043516
dbSNP Id: rs587776962

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48911634C>T , CM000685.2:g.48911634C>T GRCh38
NC_000023.10:g.48768911C>T , CM000685.1:g.48768911C>T GRCh37
NC_000023.9:g.48653855C>T NCBI36
NG_016262.1:g.12503G>A
NG_034300.1:g.5325G>A
NG_016262.2:g.12503G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000247138.11:c.3G>A MANE Select ENSP00000247138.5:p.Met1Ile
ENST00000247138.10:c.3G>A ENSP00000247138.5:p.Met1Ile
ENST00000376512.2:c.3G>A ENSP00000365695.1:p.Met1Ile
ENST00000376515.8:c.19+225G>A ENSP00000365698.3:n.19+225G>A
ENST00000376521.6:c.3G>A ENSP00000365704.1:p.Met1Ile
ENST00000376529.8:c.3G>A ENSP00000365712.3:p.Met1Ile
ENST00000445167.7:c.3G>A ENSP00000402726.2:p.Met1Ile
ENST00000446885.1:c.-126+79G>A ENSP00000415518.1:n.-126+79G>A
ENST00000452555.7:c.3G>A ENSP00000416002.2:p.Met1Ile
ENST00000616181.5:c.3G>A ENSP00000478617.1:p.Met1Ile
ENST00000634461.1:c.3G>A ENSP00000489440.1:p.Met1Ile
ENST00000634665.1:c.3G>A ENSP00000489356.1:p.Met1Ile
ENST00000635015.1:c.3G>A ENSP00000489089.1:p.Met1Ile
ENST00000635238.1:c.3G>A ENSP00000489515.1:p.Met1Ile
ENST00000635285.1:c.3G>A ENSP00000489484.1:p.Met1Ile
ENST00000635460.1:c.1G>A
ENST00000635589.1:c.3G>A ENSP00000489197.1:p.Met1Ile
ENST00000635628.1:c.3G>A ENSP00000489613.1:p.Met1Ile
NM_001032289.2:c.3G>A NP_001027460.1:p.Met1Ile
NM_001042498.2:c.3G>A NP_001035963.1:p.Met1Ile
NM_001282647.1:c.3G>A NP_001269576.1:p.Met1Ile
NM_001282648.1:c.19+225G>A NP_001269577.1:n.19+225G>A
NM_001282649.1:c.3G>A NP_001269578.1:p.Met1Ile
NM_001282650.1:c.3G>A NP_001269579.1:p.Met1Ile
NM_001282651.1:c.3G>A NP_001269580.1:p.Met1Ile
NM_005660.2:c.3G>A NP_005651.1:p.Met1Ile
NM_005660.3:c.3G>A MANE Select NP_005651.1:p.Met1Ile
NM_001032289.3:c.3G>A NP_001027460.1:p.Met1Ile
NM_001042498.3:c.3G>A NP_001035963.1:p.Met1Ile
NM_001282647.2:c.3G>A NP_001269576.1:p.Met1Ile
NM_001282649.2:c.3G>A NP_001269578.1:p.Met1Ile
NM_001282650.2:c.3G>A NP_001269579.1:p.Met1Ile
NM_001282651.2:c.3G>A NP_001269580.1:p.Met1Ile
NM_001282648.2:c.19+225G>A NP_001269577.1:n.19+225G>A