Canonical Allele Identifier: CA16608936

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 392100
• ClinVar RCV Id: RCV000427117 ; RCV002286410
• dbSNP Id: rs1042469070
• MyVariant Identifiers: chrX:g.48768913T>C (hg19) ; chrX:g.48911636T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48911636T>C , CM000685.2:g.48911636T>C	GRCh38
NC_000023.10:g.48768913T>C , CM000685.1:g.48768913T>C	GRCh37
NC_000023.9:g.48653857T>C	NCBI36
NG_016262.1:g.12501A>G
NG_034300.1:g.5323A>G
NG_016262.2:g.12501A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1A>G MANE Select	ENSP00000247138.5:p.Met1Val
ENST00000247138.10:c.1A>G	ENSP00000247138.5:p.Met1Val
ENST00000376512.2:c.1A>G	ENSP00000365695.1:p.Met1Val
ENST00000376515.8:c.19+223A>G	ENSP00000365698.3:n.19+223A>G
ENST00000376521.6:c.1A>G	ENSP00000365704.1:p.Met1Val
ENST00000376529.8:c.1A>G	ENSP00000365712.3:p.Met1Val
ENST00000445167.7:c.1A>G	ENSP00000402726.2:p.Met1Val
ENST00000446885.1:c.-126+77A>G	ENSP00000415518.1:n.-126+77A>G
ENST00000452555.7:c.1A>G	ENSP00000416002.2:p.Met1Val
ENST00000616181.5:c.1A>G	ENSP00000478617.1:p.Met1Val
ENST00000634461.1:c.1A>G	ENSP00000489440.1:p.Met1Val
ENST00000634665.1:c.1A>G	ENSP00000489356.1:p.Met1Val
ENST00000635015.1:c.1A>G	ENSP00000489089.1:p.Met1Val
ENST00000635238.1:c.1A>G	ENSP00000489515.1:p.Met1Val
ENST00000635285.1:c.1A>G	ENSP00000489484.1:p.Met1Val
ENST00000635589.1:c.1A>G	ENSP00000489197.1:p.Met1Val
ENST00000635628.1:c.1A>G	ENSP00000489613.1:p.Met1Val
NM_001032289.2:c.1A>G	NP_001027460.1:p.Met1Val
NM_001042498.2:c.1A>G	NP_001035963.1:p.Met1Val
NM_001282647.1:c.1A>G	NP_001269576.1:p.Met1Val
NM_001282648.1:c.19+223A>G	NP_001269577.1:n.19+223A>G
NM_001282649.1:c.1A>G	NP_001269578.1:p.Met1Val
NM_001282650.1:c.1A>G	NP_001269579.1:p.Met1Val
NM_001282651.1:c.1A>G	NP_001269580.1:p.Met1Val
NM_005660.2:c.1A>G	NP_005651.1:p.Met1Val
NM_005660.3:c.1A>G MANE Select	NP_005651.1:p.Met1Val
NM_001032289.3:c.1A>G	NP_001027460.1:p.Met1Val
NM_001042498.3:c.1A>G	NP_001035963.1:p.Met1Val
NM_001282647.2:c.1A>G	NP_001269576.1:p.Met1Val
NM_001282649.2:c.1A>G	NP_001269578.1:p.Met1Val
NM_001282650.2:c.1A>G	NP_001269579.1:p.Met1Val
NM_001282651.2:c.1A>G	NP_001269580.1:p.Met1Val
NM_001282648.2:c.19+223A>G	NP_001269577.1:n.19+223A>G