Canonical Allele Identifier: CA412895985

Gene: SLC35A2

Linked Data

• MyVariant Identifiers: chrX:g.48762756T>G (hg19) ; chrX:g.48905479T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905479T>G , CM000685.2:g.48905479T>G	GRCh38
NC_000023.10:g.48762756T>G , CM000685.1:g.48762756T>G	GRCh37
NC_000023.9:g.48647700T>G	NCBI36
NG_034300.1:g.11480A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.430A>C MANE Select	ENSP00000247138.5:p.Thr144Pro
ENST00000247138.10:c.430A>C	ENSP00000247138.5:p.Thr144Pro
ENST00000376515.8:c.355-587A>C	ENSP00000365698.3:n.355-587A>C
ENST00000376521.6:c.430A>C	ENSP00000365704.1:p.Thr144Pro
ENST00000376529.8:c.427-587A>C	ENSP00000365712.3:n.427-587A>C
ENST00000413561.7:c.212-220A>C
ENST00000445167.7:c.427-587A>C	ENSP00000402726.2:n.427-587A>C
ENST00000446885.1:c.214A>C	ENSP00000415518.1:p.Thr72Pro
ENST00000452555.7:c.514A>C	ENSP00000416002.2:p.Thr172Pro
ENST00000616181.5:c.469A>C	ENSP00000478617.1:p.Thr157Pro
ENST00000634665.1:c.*50A>C	ENSP00000489356.1:n.*50A>C
ENST00000635238.1:c.391A>C	ENSP00000489515.1:p.Thr131Pro
ENST00000635285.1:c.430A>C	ENSP00000489484.1:p.Thr144Pro
ENST00000635460.1:c.424+913A>C
ENST00000635589.1:c.247A>C	ENSP00000489197.1:p.Thr83Pro
ENST00000635628.1:c.*324A>C	ENSP00000489613.1:n.*324A>C
NM_001032289.2:c.427-587A>C	NP_001027460.1:n.427-587A>C
NM_001042498.2:c.430A>C	NP_001035963.1:p.Thr144Pro
NM_001282647.1:c.427-587A>C	NP_001269576.1:n.427-587A>C
NM_001282648.1:c.355-587A>C	NP_001269577.1:n.355-587A>C
NM_001282649.1:c.247A>C	NP_001269578.1:p.Thr83Pro
NM_001282650.1:c.469A>C	NP_001269579.1:p.Thr157Pro
NM_001282651.1:c.514A>C	NP_001269580.1:p.Thr172Pro
NM_005660.2:c.430A>C	NP_005651.1:p.Thr144Pro
NM_005660.3:c.430A>C MANE Select	NP_005651.1:p.Thr144Pro
NM_001032289.3:c.427-587A>C	NP_001027460.1:n.427-587A>C
NM_001042498.3:c.430A>C	NP_001035963.1:p.Thr144Pro
NM_001282647.2:c.427-587A>C	NP_001269576.1:n.427-587A>C
NM_001282649.2:c.247A>C	NP_001269578.1:p.Thr83Pro
NM_001282650.2:c.469A>C	NP_001269579.1:p.Thr157Pro
NM_001282651.2:c.514A>C	NP_001269580.1:p.Thr172Pro
NM_001282648.2:c.355-587A>C	NP_001269577.1:n.355-587A>C