Canonical Allele Identifier: CA645604021
Gene: SLC35A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48904907_48904908dup , CM000685.2:g.48904907_48904908dup GRCh38
NC_000023.10:g.48762184_48762185dup , CM000685.1:g.48762184_48762185dup GRCh37
NC_000023.9:g.48647128_48647129dup NCBI36
NG_015967.1:g.11990_11991dup
NG_034300.1:g.12051_12052dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000247138.11:c.1001_1002dup MANE Select ENSP00000247138.5:p.Val335LeufsTer15
ENST00000247138.10:c.1001_1002dup ENSP00000247138.5:p.Val335LeufsTer15
ENST00000376515.8:c.355-16_355-15dup ENSP00000365698.3:n.355-16_355-15dup
ENST00000376521.6:c.1001_1002dup ENSP00000365704.1:p.Val335LeufsTer15
ENST00000376529.8:c.427-16_427-15dup ENSP00000365712.3:n.427-16_427-15dup
ENST00000413561.7:c.563_564dup
ENST00000445167.7:c.427-16_427-15dup ENSP00000402726.2:n.427-16_427-15dup
ENST00000452555.7:c.1085_1086dup ENSP00000416002.2:p.Val363LeufsTer15
ENST00000616181.5:c.1040_1041dup ENSP00000478617.1:p.Val348LeufsTer15
ENST00000635285.1:c.1001_1002dup ENSP00000489484.1:p.Val335LeufsTer15
ENST00000635460.1:c.425-1443_425-1442dup
ENST00000635589.1:c.818_819dup ENSP00000489197.1:p.Val274LeufsTer15
ENST00000635628.1:c.*895_*896dup ENSP00000489613.1:n.*895_*896dup
NM_001032289.2:c.427-16_427-15dup NP_001027460.1:n.427-16_427-15dup
NM_001042498.2:c.1001_1002dup NP_001035963.1:p.Val335LeufsTer15
NM_001282647.1:c.427-16_427-15dup NP_001269576.1:n.427-16_427-15dup
NM_001282648.1:c.355-16_355-15dup NP_001269577.1:n.355-16_355-15dup
NM_001282649.1:c.818_819dup NP_001269578.1:p.Val274LeufsTer15
NM_001282650.1:c.1040_1041dup NP_001269579.1:p.Val348LeufsTer15
NM_001282651.1:c.1085_1086dup NP_001269580.1:p.Val363LeufsTer15
NM_005660.2:c.1001_1002dup NP_005651.1:p.Val335LeufsTer15
NM_005660.3:c.1001_1002dup MANE Select NP_005651.1:p.Val335LeufsTer15
NM_001032289.3:c.427-16_427-15dup NP_001027460.1:n.427-16_427-15dup
NM_001042498.3:c.1001_1002dup NP_001035963.1:p.Val335LeufsTer15
NM_001282647.2:c.427-16_427-15dup NP_001269576.1:n.427-16_427-15dup
NM_001282649.2:c.818_819dup NP_001269578.1:p.Val274LeufsTer15
NM_001282650.2:c.1040_1041dup NP_001269579.1:p.Val348LeufsTer15
NM_001282651.2:c.1085_1086dup NP_001269580.1:p.Val363LeufsTer15
NM_001282648.2:c.355-16_355-15dup NP_001269577.1:n.355-16_355-15dup