Canonical Allele Identifier: CA516359874
Gene: SLC35A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48762244G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48904967G>C , CM000685.2:g.48904967G>C GRCh38
NC_000023.10:g.48762244G>C , CM000685.1:g.48762244G>C GRCh37
NC_000023.9:g.48647188G>C NCBI36
NG_015967.1:g.12050G>C
NG_034300.1:g.11992C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000247138.11:c.942C>G MANE Select ENSP00000247138.5:p.Arg314=
ENST00000247138.10:c.942C>G ENSP00000247138.5:p.Arg314=
ENST00000376515.8:c.355-75C>G ENSP00000365698.3:n.355-75C>G
ENST00000376521.6:c.942C>G ENSP00000365704.1:p.Arg314=
ENST00000376529.8:c.427-75C>G ENSP00000365712.3:n.427-75C>G
ENST00000413561.7:c.504C>G
ENST00000445167.7:c.427-75C>G ENSP00000402726.2:n.427-75C>G
ENST00000452555.7:c.1026C>G ENSP00000416002.2:p.Arg342=
ENST00000616181.5:c.981C>G ENSP00000478617.1:p.Arg327=
ENST00000635285.1:c.942C>G ENSP00000489484.1:p.Arg314=
ENST00000635460.1:c.424+1425C>G
ENST00000635589.1:c.759C>G ENSP00000489197.1:p.Arg253=
ENST00000635628.1:c.*836C>G ENSP00000489613.1:n.*836C>G
NM_001032289.2:c.427-75C>G NP_001027460.1:n.427-75C>G
NM_001042498.2:c.942C>G NP_001035963.1:p.Arg314=
NM_001282647.1:c.427-75C>G NP_001269576.1:n.427-75C>G
NM_001282648.1:c.355-75C>G NP_001269577.1:n.355-75C>G
NM_001282649.1:c.759C>G NP_001269578.1:p.Arg253=
NM_001282650.1:c.981C>G NP_001269579.1:p.Arg327=
NM_001282651.1:c.1026C>G NP_001269580.1:p.Arg342=
NM_005660.2:c.942C>G NP_005651.1:p.Arg314=
NM_005660.3:c.942C>G MANE Select NP_005651.1:p.Arg314=
NM_001032289.3:c.427-75C>G NP_001027460.1:n.427-75C>G
NM_001042498.3:c.942C>G NP_001035963.1:p.Arg314=
NM_001282647.2:c.427-75C>G NP_001269576.1:n.427-75C>G
NM_001282649.2:c.759C>G NP_001269578.1:p.Arg253=
NM_001282650.2:c.981C>G NP_001269579.1:p.Arg327=
NM_001282651.2:c.1026C>G NP_001269580.1:p.Arg342=
NM_001282648.2:c.355-75C>G NP_001269577.1:n.355-75C>G