Canonical Allele Identifier: CA412895942

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48905462-G-C
• MyVariant Identifiers: chrX:g.48762739G>C (hg19) ; chrX:g.48905462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905462G>C , CM000685.2:g.48905462G>C	GRCh38
NC_000023.10:g.48762739G>C , CM000685.1:g.48762739G>C	GRCh37
NC_000023.9:g.48647683G>C	NCBI36
NG_034300.1:g.11497C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.447C>G MANE Select	ENSP00000247138.5:p.Ile149Met
ENST00000247138.10:c.447C>G	ENSP00000247138.5:p.Ile149Met
ENST00000376515.8:c.355-570C>G	ENSP00000365698.3:n.355-570C>G
ENST00000376521.6:c.447C>G	ENSP00000365704.1:p.Ile149Met
ENST00000376529.8:c.427-570C>G	ENSP00000365712.3:n.427-570C>G
ENST00000413561.7:c.212-203C>G
ENST00000445167.7:c.427-570C>G	ENSP00000402726.2:n.427-570C>G
ENST00000446885.1:c.231C>G	ENSP00000415518.1:p.Ile77Met
ENST00000452555.7:c.531C>G	ENSP00000416002.2:p.Ile177Met
ENST00000616181.5:c.486C>G	ENSP00000478617.1:p.Ile162Met
ENST00000634665.1:c.*67C>G	ENSP00000489356.1:n.*67C>G
ENST00000635238.1:c.408C>G	ENSP00000489515.1:p.Ile136Met
ENST00000635285.1:c.447C>G	ENSP00000489484.1:p.Ile149Met
ENST00000635460.1:c.424+930C>G
ENST00000635589.1:c.264C>G	ENSP00000489197.1:p.Ile88Met
ENST00000635628.1:c.*341C>G	ENSP00000489613.1:n.*341C>G
NM_001032289.2:c.427-570C>G	NP_001027460.1:n.427-570C>G
NM_001042498.2:c.447C>G	NP_001035963.1:p.Ile149Met
NM_001282647.1:c.427-570C>G	NP_001269576.1:n.427-570C>G
NM_001282648.1:c.355-570C>G	NP_001269577.1:n.355-570C>G
NM_001282649.1:c.264C>G	NP_001269578.1:p.Ile88Met
NM_001282650.1:c.486C>G	NP_001269579.1:p.Ile162Met
NM_001282651.1:c.531C>G	NP_001269580.1:p.Ile177Met
NM_005660.2:c.447C>G	NP_005651.1:p.Ile149Met
NM_005660.3:c.447C>G MANE Select	NP_005651.1:p.Ile149Met
NM_001032289.3:c.427-570C>G	NP_001027460.1:n.427-570C>G
NM_001042498.3:c.447C>G	NP_001035963.1:p.Ile149Met
NM_001282647.2:c.427-570C>G	NP_001269576.1:n.427-570C>G
NM_001282649.2:c.264C>G	NP_001269578.1:p.Ile88Met
NM_001282650.2:c.486C>G	NP_001269579.1:p.Ile162Met
NM_001282651.2:c.531C>G	NP_001269580.1:p.Ile177Met
NM_001282648.2:c.355-570C>G	NP_001269577.1:n.355-570C>G