Canonical Allele Identifier: CA2428428695
Gene: SLC35A2 HGNC NCBI

Linked Data

dbSNP Id: rs2063471668

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48904613_48904614del , CM000685.2:g.48904613_48904614del GRCh38
NC_000023.10:g.48761890_48761891del , CM000685.1:g.48761890_48761891del GRCh37
NC_000023.9:g.48646834_48646835del NCBI36
NG_015967.1:g.11696_11697del
NG_034300.1:g.12345_12346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000247138.11:c.1163+132_1163+133del MANE Select ENSP00000247138.5:n.1163+132_1163+133del
ENST00000247138.10:c.1163+132_1163+133del ENSP00000247138.5:n.1163+132_1163+133del
ENST00000376515.8:c.633_634del ENSP00000365698.3:p.Trp212ValfsTer26
ENST00000376521.6:c.*113_*114del ENSP00000365704.1:n.*113_*114del
ENST00000376529.8:c.573+132_573+133del ENSP00000365712.3:n.573+132_573+133del
ENST00000413561.7:c.857_858del
ENST00000445167.7:c.705_706del ENSP00000402726.2:p.Trp236ValfsTer26
ENST00000452555.7:c.*113_*114del ENSP00000416002.2:n.*113_*114del
ENST00000616181.5:c.*113_*114del ENSP00000478617.1:n.*113_*114del
ENST00000635285.1:c.*113_*114del ENSP00000489484.1:n.*113_*114del
ENST00000635460.1:c.425-1149_425-1148del
ENST00000635589.1:c.*113_*114del ENSP00000489197.1:n.*113_*114del
ENST00000635628.1:c.*1189_*1190del ENSP00000489613.1:n.*1189_*1190del
NM_001032289.2:c.705_706del NP_001027460.1:p.Trp236ValfsTer26
NM_001042498.2:c.*113_*114del NP_001035963.1:n.*113_*114del
NM_001282647.1:c.573+132_573+133del NP_001269576.1:n.573+132_573+133del
NM_001282648.1:c.633_634del NP_001269577.1:p.Trp212ValfsTer26
NM_001282649.1:c.*113_*114del NP_001269578.1:n.*113_*114del
NM_001282650.1:c.*113_*114del NP_001269579.1:n.*113_*114del
NM_001282651.1:c.*113_*114del NP_001269580.1:n.*113_*114del
NM_005660.2:c.1163+132_1163+133del NP_005651.1:n.1163+132_1163+133del
NM_005660.3:c.1163+132_1163+133del MANE Select NP_005651.1:n.1163+132_1163+133del
NM_001032289.3:c.705_706del NP_001027460.1:p.Trp236ValfsTer26
NM_001042498.3:c.*113_*114del NP_001035963.1:n.*113_*114del
NM_001282647.2:c.573+132_573+133del NP_001269576.1:n.573+132_573+133del
NM_001282649.2:c.*113_*114del NP_001269578.1:n.*113_*114del
NM_001282650.2:c.*113_*114del NP_001269579.1:n.*113_*114del
NM_001282651.2:c.*113_*114del NP_001269580.1:n.*113_*114del
NM_001282648.2:c.633_634del NP_001269577.1:p.Trp212ValfsTer26