Canonical Allele Identifier: CA412892755

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48904592-A-G
• MyVariant Identifiers: chrX:g.48761869A>G (hg19) ; chrX:g.48904592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904592A>G , CM000685.2:g.48904592A>G	GRCh38
NC_000023.10:g.48761869A>G , CM000685.1:g.48761869A>G	GRCh37
NC_000023.9:g.48646813A>G	NCBI36
NG_015967.1:g.11675A>G
NG_034300.1:g.12367T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1163+154T>C MANE Select	ENSP00000247138.5:n.1163+154T>C
ENST00000247138.10:c.1163+154T>C	ENSP00000247138.5:n.1163+154T>C
ENST00000376515.8:c.655T>C	ENSP00000365698.3:p.Ter219Arg
ENST00000376521.6:c.*135T>C	ENSP00000365704.1:n.*135T>C
ENST00000376529.8:c.573+154T>C	ENSP00000365712.3:n.573+154T>C
ENST00000413561.7:c.879T>C
ENST00000445167.7:c.727T>C	ENSP00000402726.2:p.Ter243Arg
ENST00000452555.7:c.*135T>C	ENSP00000416002.2:n.*135T>C
ENST00000616181.5:c.*135T>C	ENSP00000478617.1:n.*135T>C
ENST00000635285.1:c.*135T>C	ENSP00000489484.1:n.*135T>C
ENST00000635460.1:c.425-1127T>C
ENST00000635589.1:c.*135T>C	ENSP00000489197.1:n.*135T>C
ENST00000635628.1:c.*1211T>C	ENSP00000489613.1:n.*1211T>C
NM_001032289.2:c.727T>C	NP_001027460.1:p.Ter243Arg
NM_001042498.2:c.*135T>C	NP_001035963.1:n.*135T>C
NM_001282647.1:c.573+154T>C	NP_001269576.1:n.573+154T>C
NM_001282648.1:c.655T>C	NP_001269577.1:p.Ter219Arg
NM_001282649.1:c.*135T>C	NP_001269578.1:n.*135T>C
NM_001282650.1:c.*135T>C	NP_001269579.1:n.*135T>C
NM_001282651.1:c.*135T>C	NP_001269580.1:n.*135T>C
NM_005660.2:c.1163+154T>C	NP_005651.1:n.1163+154T>C
NM_005660.3:c.1163+154T>C MANE Select	NP_005651.1:n.1163+154T>C
NM_001032289.3:c.727T>C	NP_001027460.1:p.Ter243Arg
NM_001042498.3:c.*135T>C	NP_001035963.1:n.*135T>C
NM_001282647.2:c.573+154T>C	NP_001269576.1:n.573+154T>C
NM_001282649.2:c.*135T>C	NP_001269578.1:n.*135T>C
NM_001282650.2:c.*135T>C	NP_001269579.1:n.*135T>C
NM_001282651.2:c.*135T>C	NP_001269580.1:n.*135T>C
NM_001282648.2:c.655T>C	NP_001269577.1:p.Ter219Arg