Canonical Allele Identifier: CA412894611

Gene: SLC35A2

Linked Data

• MyVariant Identifiers: chrX:g.48762217T>A (hg19) ; chrX:g.48904940T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904940T>A , CM000685.2:g.48904940T>A	GRCh38
NC_000023.10:g.48762217T>A , CM000685.1:g.48762217T>A	GRCh37
NC_000023.9:g.48647161T>A	NCBI36
NG_015967.1:g.12023T>A
NG_034300.1:g.12019A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.969A>T MANE Select	ENSP00000247138.5:p.Leu323Phe
ENST00000247138.10:c.969A>T	ENSP00000247138.5:p.Leu323Phe
ENST00000376515.8:c.355-48A>T	ENSP00000365698.3:n.355-48A>T
ENST00000376521.6:c.969A>T	ENSP00000365704.1:p.Leu323Phe
ENST00000376529.8:c.427-48A>T	ENSP00000365712.3:n.427-48A>T
ENST00000413561.7:c.531A>T
ENST00000445167.7:c.427-48A>T	ENSP00000402726.2:n.427-48A>T
ENST00000452555.7:c.1053A>T	ENSP00000416002.2:p.Leu351Phe
ENST00000616181.5:c.1008A>T	ENSP00000478617.1:p.Leu336Phe
ENST00000635285.1:c.969A>T	ENSP00000489484.1:p.Leu323Phe
ENST00000635460.1:c.424+1452A>T
ENST00000635589.1:c.786A>T	ENSP00000489197.1:p.Leu262Phe
ENST00000635628.1:c.*863A>T	ENSP00000489613.1:n.*863A>T
NM_001032289.2:c.427-48A>T	NP_001027460.1:n.427-48A>T
NM_001042498.2:c.969A>T	NP_001035963.1:p.Leu323Phe
NM_001282647.1:c.427-48A>T	NP_001269576.1:n.427-48A>T
NM_001282648.1:c.355-48A>T	NP_001269577.1:n.355-48A>T
NM_001282649.1:c.786A>T	NP_001269578.1:p.Leu262Phe
NM_001282650.1:c.1008A>T	NP_001269579.1:p.Leu336Phe
NM_001282651.1:c.1053A>T	NP_001269580.1:p.Leu351Phe
NM_005660.2:c.969A>T	NP_005651.1:p.Leu323Phe
NM_005660.3:c.969A>T MANE Select	NP_005651.1:p.Leu323Phe
NM_001032289.3:c.427-48A>T	NP_001027460.1:n.427-48A>T
NM_001042498.3:c.969A>T	NP_001035963.1:p.Leu323Phe
NM_001282647.2:c.427-48A>T	NP_001269576.1:n.427-48A>T
NM_001282649.2:c.786A>T	NP_001269578.1:p.Leu262Phe
NM_001282650.2:c.1008A>T	NP_001269579.1:p.Leu336Phe
NM_001282651.2:c.1053A>T	NP_001269580.1:p.Leu351Phe
NM_001282648.2:c.355-48A>T	NP_001269577.1:n.355-48A>T