Canonical Allele Identifier: CA516359862

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 749593
• ClinVar RCV Id: RCV000926487
• dbSNP Id: rs1602337852
• MyVariant Identifiers: chrX:g.48762223G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904946G>A , CM000685.2:g.48904946G>A	GRCh38
NC_000023.10:g.48762223G>A , CM000685.1:g.48762223G>A	GRCh37
NC_000023.9:g.48647167G>A	NCBI36
NG_015967.1:g.12029G>A
NG_034300.1:g.12013C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.963C>T MANE Select	ENSP00000247138.5:p.Asp321=
ENST00000247138.10:c.963C>T	ENSP00000247138.5:p.Asp321=
ENST00000376515.8:c.355-54C>T	ENSP00000365698.3:n.355-54C>T
ENST00000376521.6:c.963C>T	ENSP00000365704.1:p.Asp321=
ENST00000376529.8:c.427-54C>T	ENSP00000365712.3:n.427-54C>T
ENST00000413561.7:c.525C>T
ENST00000445167.7:c.427-54C>T	ENSP00000402726.2:n.427-54C>T
ENST00000452555.7:c.1047C>T	ENSP00000416002.2:p.Asp349=
ENST00000616181.5:c.1002C>T	ENSP00000478617.1:p.Asp334=
ENST00000635285.1:c.963C>T	ENSP00000489484.1:p.Asp321=
ENST00000635460.1:c.424+1446C>T
ENST00000635589.1:c.780C>T	ENSP00000489197.1:p.Asp260=
ENST00000635628.1:c.*857C>T	ENSP00000489613.1:n.*857C>T
NM_001032289.2:c.427-54C>T	NP_001027460.1:n.427-54C>T
NM_001042498.2:c.963C>T	NP_001035963.1:p.Asp321=
NM_001282647.1:c.427-54C>T	NP_001269576.1:n.427-54C>T
NM_001282648.1:c.355-54C>T	NP_001269577.1:n.355-54C>T
NM_001282649.1:c.780C>T	NP_001269578.1:p.Asp260=
NM_001282650.1:c.1002C>T	NP_001269579.1:p.Asp334=
NM_001282651.1:c.1047C>T	NP_001269580.1:p.Asp349=
NM_005660.2:c.963C>T	NP_005651.1:p.Asp321=
NM_005660.3:c.963C>T MANE Select	NP_005651.1:p.Asp321=
NM_001032289.3:c.427-54C>T	NP_001027460.1:n.427-54C>T
NM_001042498.3:c.963C>T	NP_001035963.1:p.Asp321=
NM_001282647.2:c.427-54C>T	NP_001269576.1:n.427-54C>T
NM_001282649.2:c.780C>T	NP_001269578.1:p.Asp260=
NM_001282650.2:c.1002C>T	NP_001269579.1:p.Asp334=
NM_001282651.2:c.1047C>T	NP_001269580.1:p.Asp349=
NM_001282648.2:c.355-54C>T	NP_001269577.1:n.355-54C>T