Canonical Allele Identifier: CA412895837

Gene: SLC35A2

Linked Data

• MyVariant Identifiers: chrX:g.48762687G>C (hg19) ; chrX:g.48905410G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905410G>C , CM000685.2:g.48905410G>C	GRCh38
NC_000023.10:g.48762687G>C , CM000685.1:g.48762687G>C	GRCh37
NC_000023.9:g.48647631G>C	NCBI36
NG_034300.1:g.11549C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.499C>G MANE Select	ENSP00000247138.5:p.Leu167Val
ENST00000247138.10:c.499C>G	ENSP00000247138.5:p.Leu167Val
ENST00000376515.8:c.355-518C>G	ENSP00000365698.3:n.355-518C>G
ENST00000376521.6:c.499C>G	ENSP00000365704.1:p.Leu167Val
ENST00000376529.8:c.427-518C>G	ENSP00000365712.3:n.427-518C>G
ENST00000413561.7:c.212-151C>G
ENST00000445167.7:c.427-518C>G	ENSP00000402726.2:n.427-518C>G
ENST00000446885.1:c.283C>G	ENSP00000415518.1:p.Leu95Val
ENST00000452555.7:c.583C>G	ENSP00000416002.2:p.Leu195Val
ENST00000616181.5:c.538C>G	ENSP00000478617.1:p.Leu180Val
ENST00000634665.1:c.*119C>G	ENSP00000489356.1:n.*119C>G
ENST00000635238.1:c.460C>G	ENSP00000489515.1:p.Leu154Val
ENST00000635285.1:c.499C>G	ENSP00000489484.1:p.Leu167Val
ENST00000635460.1:c.424+982C>G
ENST00000635589.1:c.316C>G	ENSP00000489197.1:p.Leu106Val
ENST00000635628.1:c.*393C>G	ENSP00000489613.1:n.*393C>G
NM_001032289.2:c.427-518C>G	NP_001027460.1:n.427-518C>G
NM_001042498.2:c.499C>G	NP_001035963.1:p.Leu167Val
NM_001282647.1:c.427-518C>G	NP_001269576.1:n.427-518C>G
NM_001282648.1:c.355-518C>G	NP_001269577.1:n.355-518C>G
NM_001282649.1:c.316C>G	NP_001269578.1:p.Leu106Val
NM_001282650.1:c.538C>G	NP_001269579.1:p.Leu180Val
NM_001282651.1:c.583C>G	NP_001269580.1:p.Leu195Val
NM_005660.2:c.499C>G	NP_005651.1:p.Leu167Val
NM_005660.3:c.499C>G MANE Select	NP_005651.1:p.Leu167Val
NM_001032289.3:c.427-518C>G	NP_001027460.1:n.427-518C>G
NM_001042498.3:c.499C>G	NP_001035963.1:p.Leu167Val
NM_001282647.2:c.427-518C>G	NP_001269576.1:n.427-518C>G
NM_001282649.2:c.316C>G	NP_001269578.1:p.Leu106Val
NM_001282650.2:c.538C>G	NP_001269579.1:p.Leu180Val
NM_001282651.2:c.583C>G	NP_001269580.1:p.Leu195Val
NM_001282648.2:c.355-518C>G	NP_001269577.1:n.355-518C>G