Canonical Allele Identifier: CA2428428820

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 1042432
• ClinVar RCV Id: RCV001346389
• dbSNP Id: rs2063477224

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904918_48904920del , CM000685.2:g.48904918_48904920del	GRCh38
NC_000023.10:g.48762195_48762197del , CM000685.1:g.48762195_48762197del	GRCh37
NC_000023.9:g.48647139_48647141del	NCBI36
NG_015967.1:g.12001_12003del
NG_034300.1:g.12041_12043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.991_993del MANE Select	ENSP00000247138.5:p.Val331del
ENST00000247138.10:c.991_993del	ENSP00000247138.5:p.Val331del
ENST00000376515.8:c.355-26_355-24del	ENSP00000365698.3:n.355-26_355-24del
ENST00000376521.6:c.991_993del	ENSP00000365704.1:p.Val331del
ENST00000376529.8:c.427-26_427-24del	ENSP00000365712.3:n.427-26_427-24del
ENST00000413561.7:c.553_555del
ENST00000445167.7:c.427-26_427-24del	ENSP00000402726.2:n.427-26_427-24del
ENST00000452555.7:c.1075_1077del	ENSP00000416002.2:p.Val359del
ENST00000616181.5:c.1030_1032del	ENSP00000478617.1:p.Val344del
ENST00000635285.1:c.991_993del	ENSP00000489484.1:p.Val331del
ENST00000635460.1:c.425-1453_425-1451del
ENST00000635589.1:c.808_810del	ENSP00000489197.1:p.Val270del
ENST00000635628.1:c.*885_*887del	ENSP00000489613.1:n.*885_*887del
NM_001032289.2:c.427-26_427-24del	NP_001027460.1:n.427-26_427-24del
NM_001042498.2:c.991_993del	NP_001035963.1:p.Val331del
NM_001282647.1:c.427-26_427-24del	NP_001269576.1:n.427-26_427-24del
NM_001282648.1:c.355-26_355-24del	NP_001269577.1:n.355-26_355-24del
NM_001282649.1:c.808_810del	NP_001269578.1:p.Val270del
NM_001282650.1:c.1030_1032del	NP_001269579.1:p.Val344del
NM_001282651.1:c.1075_1077del	NP_001269580.1:p.Val359del
NM_005660.2:c.991_993del	NP_005651.1:p.Val331del
NM_005660.3:c.991_993del MANE Select	NP_005651.1:p.Val331del
NM_001032289.3:c.427-26_427-24del	NP_001027460.1:n.427-26_427-24del
NM_001042498.3:c.991_993del	NP_001035963.1:p.Val331del
NM_001282647.2:c.427-26_427-24del	NP_001269576.1:n.427-26_427-24del
NM_001282649.2:c.808_810del	NP_001269578.1:p.Val270del
NM_001282650.2:c.1030_1032del	NP_001269579.1:p.Val344del
NM_001282651.2:c.1075_1077del	NP_001269580.1:p.Val359del
NM_001282648.2:c.355-26_355-24del	NP_001269577.1:n.355-26_355-24del