Canonical Allele Identifier: CA412893996

Gene: SLC35A2

Linked Data

• dbSNP Id: rs1266484275
• gnomAD v2: X-48762042-T-G
• gnomAD v4: X-48904765-T-G
• MyVariant Identifiers: chrX:g.48762042T>G (hg19) ; chrX:g.48904765T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904765T>G , CM000685.2:g.48904765T>G	GRCh38
NC_000023.10:g.48762042T>G , CM000685.1:g.48762042T>G	GRCh37
NC_000023.9:g.48646986T>G	NCBI36
NG_015967.1:g.11848T>G
NG_034300.1:g.12194A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1144A>C MANE Select	ENSP00000247138.5:p.Thr382Pro
ENST00000247138.10:c.1144A>C	ENSP00000247138.5:p.Thr382Pro
ENST00000376515.8:c.482A>C	ENSP00000365698.3:p.His161Pro
ENST00000376521.6:c.1144A>C	ENSP00000365704.1:p.Thr382Pro
ENST00000376529.8:c.554A>C	ENSP00000365712.3:p.His185Pro
ENST00000413561.7:c.706A>C
ENST00000445167.7:c.554A>C	ENSP00000402726.2:p.His185Pro
ENST00000452555.7:c.1228A>C	ENSP00000416002.2:p.Thr410Pro
ENST00000616181.5:c.1183A>C	ENSP00000478617.1:p.Thr395Pro
ENST00000635285.1:c.1144A>C	ENSP00000489484.1:p.Thr382Pro
ENST00000635460.1:c.425-1300A>C
ENST00000635589.1:c.961A>C	ENSP00000489197.1:p.Thr321Pro
ENST00000635628.1:c.*1038A>C	ENSP00000489613.1:n.*1038A>C
NM_001032289.2:c.554A>C	NP_001027460.1:p.His185Pro
NM_001042498.2:c.1144A>C	NP_001035963.1:p.Thr382Pro
NM_001282647.1:c.554A>C	NP_001269576.1:p.His185Pro
NM_001282648.1:c.482A>C	NP_001269577.1:p.His161Pro
NM_001282649.1:c.961A>C	NP_001269578.1:p.Thr321Pro
NM_001282650.1:c.1183A>C	NP_001269579.1:p.Thr395Pro
NM_001282651.1:c.1228A>C	NP_001269580.1:p.Thr410Pro
NM_005660.2:c.1144A>C	NP_005651.1:p.Thr382Pro
NM_005660.3:c.1144A>C MANE Select	NP_005651.1:p.Thr382Pro
NM_001032289.3:c.554A>C	NP_001027460.1:p.His185Pro
NM_001042498.3:c.1144A>C	NP_001035963.1:p.Thr382Pro
NM_001282647.2:c.554A>C	NP_001269576.1:p.His185Pro
NM_001282649.2:c.961A>C	NP_001269578.1:p.Thr321Pro
NM_001282650.2:c.1183A>C	NP_001269579.1:p.Thr395Pro
NM_001282651.2:c.1228A>C	NP_001269580.1:p.Thr410Pro
NM_001282648.2:c.482A>C	NP_001269577.1:p.His161Pro