Canonical Allele Identifier: CA412894787

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48904981-C-G
• MyVariant Identifiers: chrX:g.48762258C>G (hg19) ; chrX:g.48904981C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904981C>G , CM000685.2:g.48904981C>G	GRCh38
NC_000023.10:g.48762258C>G , CM000685.1:g.48762258C>G	GRCh37
NC_000023.9:g.48647202C>G	NCBI36
NG_015967.1:g.12064C>G
NG_034300.1:g.11978G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.928G>C MANE Select	ENSP00000247138.5:p.Val310Leu
ENST00000247138.10:c.928G>C	ENSP00000247138.5:p.Val310Leu
ENST00000376515.8:c.355-89G>C	ENSP00000365698.3:n.355-89G>C
ENST00000376521.6:c.928G>C	ENSP00000365704.1:p.Val310Leu
ENST00000376529.8:c.427-89G>C	ENSP00000365712.3:n.427-89G>C
ENST00000413561.7:c.490G>C
ENST00000445167.7:c.427-89G>C	ENSP00000402726.2:n.427-89G>C
ENST00000452555.7:c.1012G>C	ENSP00000416002.2:p.Val338Leu
ENST00000616181.5:c.967G>C	ENSP00000478617.1:p.Val323Leu
ENST00000635285.1:c.928G>C	ENSP00000489484.1:p.Val310Leu
ENST00000635460.1:c.424+1411G>C
ENST00000635589.1:c.745G>C	ENSP00000489197.1:p.Val249Leu
ENST00000635628.1:c.*822G>C	ENSP00000489613.1:n.*822G>C
NM_001032289.2:c.427-89G>C	NP_001027460.1:n.427-89G>C
NM_001042498.2:c.928G>C	NP_001035963.1:p.Val310Leu
NM_001282647.1:c.427-89G>C	NP_001269576.1:n.427-89G>C
NM_001282648.1:c.355-89G>C	NP_001269577.1:n.355-89G>C
NM_001282649.1:c.745G>C	NP_001269578.1:p.Val249Leu
NM_001282650.1:c.967G>C	NP_001269579.1:p.Val323Leu
NM_001282651.1:c.1012G>C	NP_001269580.1:p.Val338Leu
NM_005660.2:c.928G>C	NP_005651.1:p.Val310Leu
NM_005660.3:c.928G>C MANE Select	NP_005651.1:p.Val310Leu
NM_001032289.3:c.427-89G>C	NP_001027460.1:n.427-89G>C
NM_001042498.3:c.928G>C	NP_001035963.1:p.Val310Leu
NM_001282647.2:c.427-89G>C	NP_001269576.1:n.427-89G>C
NM_001282649.2:c.745G>C	NP_001269578.1:p.Val249Leu
NM_001282650.2:c.967G>C	NP_001269579.1:p.Val323Leu
NM_001282651.2:c.1012G>C	NP_001269580.1:p.Val338Leu
NM_001282648.2:c.355-89G>C	NP_001269577.1:n.355-89G>C