Canonical Allele Identifier: CA412893958

Gene: SLC35A2

Linked Data

• MyVariant Identifiers: chrX:g.48762029A>C (hg19) ; chrX:g.48904752A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904752A>C , CM000685.2:g.48904752A>C	GRCh38
NC_000023.10:g.48762029A>C , CM000685.1:g.48762029A>C	GRCh37
NC_000023.9:g.48646973A>C	NCBI36
NG_015967.1:g.11835A>C
NG_034300.1:g.12207T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1157T>G MANE Select	ENSP00000247138.5:p.Leu386Arg
ENST00000247138.10:c.1157T>G	ENSP00000247138.5:p.Leu386Arg
ENST00000376515.8:c.495T>G	ENSP00000365698.3:p.Ser165=
ENST00000376521.6:c.1157T>G	ENSP00000365704.1:p.Leu386Arg
ENST00000376529.8:c.567T>G	ENSP00000365712.3:p.Ser189=
ENST00000413561.7:c.719T>G
ENST00000445167.7:c.567T>G	ENSP00000402726.2:p.Ser189=
ENST00000452555.7:c.1241T>G	ENSP00000416002.2:p.Leu414Arg
ENST00000616181.5:c.1196T>G	ENSP00000478617.1:p.Leu399Arg
ENST00000635285.1:c.1157T>G	ENSP00000489484.1:p.Leu386Arg
ENST00000635460.1:c.425-1287T>G
ENST00000635589.1:c.974T>G	ENSP00000489197.1:p.Leu325Arg
ENST00000635628.1:c.*1051T>G	ENSP00000489613.1:n.*1051T>G
NM_001032289.2:c.567T>G	NP_001027460.1:p.Ser189=
NM_001042498.2:c.1157T>G	NP_001035963.1:p.Leu386Arg
NM_001282647.1:c.567T>G	NP_001269576.1:p.Ser189=
NM_001282648.1:c.495T>G	NP_001269577.1:p.Ser165=
NM_001282649.1:c.974T>G	NP_001269578.1:p.Leu325Arg
NM_001282650.1:c.1196T>G	NP_001269579.1:p.Leu399Arg
NM_001282651.1:c.1241T>G	NP_001269580.1:p.Leu414Arg
NM_005660.2:c.1157T>G	NP_005651.1:p.Leu386Arg
NM_005660.3:c.1157T>G MANE Select	NP_005651.1:p.Leu386Arg
NM_001032289.3:c.567T>G	NP_001027460.1:p.Ser189=
NM_001042498.3:c.1157T>G	NP_001035963.1:p.Leu386Arg
NM_001282647.2:c.567T>G	NP_001269576.1:p.Ser189=
NM_001282649.2:c.974T>G	NP_001269578.1:p.Leu325Arg
NM_001282650.2:c.1196T>G	NP_001269579.1:p.Leu399Arg
NM_001282651.2:c.1241T>G	NP_001269580.1:p.Leu414Arg
NM_001282648.2:c.495T>G	NP_001269577.1:p.Ser165=