Canonical Allele Identifier: CA10406064

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 2038309
• ClinVar RCV Id: RCV002890657
• dbSNP Id: rs201330204
• ExAC: X:48762118 G / A
• gnomAD v2: X-48762118-G-A
• gnomAD v3: X-48904841-G-A
• gnomAD v4: X-48904841-G-A
• MyVariant Identifiers: chrX:g.48762118G>A (hg19) ; chrX:g.48904841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904841G>A , CM000685.2:g.48904841G>A	GRCh38
NC_000023.10:g.48762118G>A , CM000685.1:g.48762118G>A	GRCh37
NC_000023.9:g.48647062G>A	NCBI36
NG_015967.1:g.11924G>A
NG_034300.1:g.12118C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.1068C>T MANE Select	ENSP00000247138.5:p.Ser356=
ENST00000247138.10:c.1068C>T	ENSP00000247138.5:p.Ser356=
ENST00000376515.8:c.406C>T	ENSP00000365698.3:p.Arg136Trp
ENST00000376521.6:c.1068C>T	ENSP00000365704.1:p.Ser356=
ENST00000376529.8:c.478C>T	ENSP00000365712.3:p.Arg160Trp
ENST00000413561.7:c.630C>T
ENST00000445167.7:c.478C>T	ENSP00000402726.2:p.Arg160Trp
ENST00000452555.7:c.1152C>T	ENSP00000416002.2:p.Ser384=
ENST00000616181.5:c.1107C>T	ENSP00000478617.1:p.Ser369=
ENST00000635285.1:c.1068C>T	ENSP00000489484.1:p.Ser356=
ENST00000635460.1:c.425-1376C>T
ENST00000635589.1:c.885C>T	ENSP00000489197.1:p.Ser295=
ENST00000635628.1:c.*962C>T	ENSP00000489613.1:n.*962C>T
NM_001032289.2:c.478C>T	NP_001027460.1:p.Arg160Trp
NM_001042498.2:c.1068C>T	NP_001035963.1:p.Ser356=
NM_001282647.1:c.478C>T	NP_001269576.1:p.Arg160Trp
NM_001282648.1:c.406C>T	NP_001269577.1:p.Arg136Trp
NM_001282649.1:c.885C>T	NP_001269578.1:p.Ser295=
NM_001282650.1:c.1107C>T	NP_001269579.1:p.Ser369=
NM_001282651.1:c.1152C>T	NP_001269580.1:p.Ser384=
NM_005660.2:c.1068C>T	NP_005651.1:p.Ser356=
NM_005660.3:c.1068C>T MANE Select	NP_005651.1:p.Ser356=
NM_001032289.3:c.478C>T	NP_001027460.1:p.Arg160Trp
NM_001042498.3:c.1068C>T	NP_001035963.1:p.Ser356=
NM_001282647.2:c.478C>T	NP_001269576.1:p.Arg160Trp
NM_001282649.2:c.885C>T	NP_001269578.1:p.Ser295=
NM_001282650.2:c.1107C>T	NP_001269579.1:p.Ser369=
NM_001282651.2:c.1152C>T	NP_001269580.1:p.Ser384=
NM_001282648.2:c.406C>T	NP_001269577.1:p.Arg136Trp