Canonical Allele Identifier: CA2553408221
Gene: SLC35A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48905032_48905033insTACCTTAGGATAAATATCATCACTCAGATAGGTCGTATCTACACGAGGATAAGTCGTCAGTTTACGTTCGTAAAGTGTCTGTATCGTAGCCAAAGTTTCTTCGGCAGACATAGCAAACTTCTTATTACA , CM000685.2:g.48905032_48905033insTACCTTAGGATAAATATCATCACTCAGATAGGTCGTATCTACACGAGGATAAGTCGTCAGTTTACGTTCGTAAAGTGTCTGTATCGTAGCCAAAGTTTCTTCGGCAGACATAGCAAACTTCTTATTACA GRCh38
NC_000023.10:g.48762309_48762310insTACCTTAGGATAAATATCATCACTCAGATAGGTCGTATCTACACGAGGATAAGTCGTCAGTTTACGTTCGTAAAGTGTCTGTATCGTAGCCAAAGTTTCTTCGGCAGACATAGCAAACTTCTTATTACA , CM000685.1:g.48762309_48762310insTACCTTAGGATAAATATCATCACTCAGATAGGTCGTATCTACACGAGGATAAGTCGTCAGTTTACGTTCGTAAAGTGTCTGTATCGTAGCCAAAGTTTCTTCGGCAGACATAGCAAACTTCTTATTACA GRCh37
NC_000023.9:g.48647253_48647254insTACCTTAGGATAAATATCATCACTCAGATAGGTCGTATCTACACGAGGATAAGTCGTCAGTTTACGTTCGTAAAGTGTCTGTATCGTAGCCAAAGTTTCTTCGGCAGACATAGCAAACTTCTTATTACA NCBI36
NG_015967.1:g.12115_12116insTACCTTAGGATAAATATCATCACTCAGATAGGTCGTATCTACACGAGGATAAGTCGTCAGTTTACGTTCGTAAAGTGTCTGTATCGTAGCCAAAGTTTCTTCGGCAGACATAGCAAACTTCTTATTACA
NG_034300.1:g.11926_11927insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000247138.11:c.876_877insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA MANE Select ENSP00000247138.5:p.Ala292_Asp293insCysAsnLysLysPheAlaMetSerA...
ENST00000247138.10:c.876_877insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA ENSP00000247138.5:p.Ala292_Asp293insCysAsnLysLysPheAlaMetSerA...
ENST00000376515.8:c.355-141_355-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA ENSP00000365698.3:n.355-141_355-140insTGTAATAAGAAGTTTGCTATGTC...
ENST00000376521.6:c.876_877insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA ENSP00000365704.1:p.Ala292_Asp293insCysAsnLysLysPheAlaMetSerA...
ENST00000376529.8:c.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA ENSP00000365712.3:n.427-141_427-140insTGTAATAAGAAGTTTGCTATGTC...
ENST00000413561.7:c.438_439insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA
ENST00000445167.7:c.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA ENSP00000402726.2:n.427-141_427-140insTGTAATAAGAAGTTTGCTATGTC...
ENST00000452555.7:c.960_961insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA ENSP00000416002.2:p.Ala320_Asp321insCysAsnLysLysPheAlaMetSerA...
ENST00000616181.5:c.915_916insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA ENSP00000478617.1:p.Ala305_Asp306insCysAsnLysLysPheAlaMetSerA...
ENST00000635285.1:c.876_877insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA ENSP00000489484.1:p.Ala292_Asp293insCysAsnLysLysPheAlaMetSerA...
ENST00000635460.1:c.424+1359_424+1360insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA
ENST00000635589.1:c.693_694insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA ENSP00000489197.1:p.Ala231_Asp232insCysAsnLysLysPheAlaMetSerA...
ENST00000635628.1:c.*770_*771insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA ENSP00000489613.1:n.*770_*771insTGTAATAAGAAGTTTGCTATGTCTGCCGA...
NM_001032289.2:c.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001027460.1:n.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGC...
NM_001042498.2:c.876_877insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001035963.1:p.Ala292_Asp293insCysAsnLysLysPheAlaMetSerAlaG...
NM_001282647.1:c.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001269576.1:n.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGC...
NM_001282648.1:c.355-141_355-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001269577.1:n.355-141_355-140insTGTAATAAGAAGTTTGCTATGTCTGC...
NM_001282649.1:c.693_694insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001269578.1:p.Ala231_Asp232insCysAsnLysLysPheAlaMetSerAlaG...
NM_001282650.1:c.915_916insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001269579.1:p.Ala305_Asp306insCysAsnLysLysPheAlaMetSerAlaG...
NM_001282651.1:c.960_961insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001269580.1:p.Ala320_Asp321insCysAsnLysLysPheAlaMetSerAlaG...
NM_005660.2:c.876_877insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_005651.1:p.Ala292_Asp293insCysAsnLysLysPheAlaMetSerAlaGluG...
NM_005660.3:c.876_877insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA MANE Select NP_005651.1:p.Ala292_Asp293insCysAsnLysLysPheAlaMetSerAlaGluG...
NM_001032289.3:c.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001027460.1:n.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGC...
NM_001042498.3:c.876_877insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001035963.1:p.Ala292_Asp293insCysAsnLysLysPheAlaMetSerAlaG...
NM_001282647.2:c.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001269576.1:n.427-141_427-140insTGTAATAAGAAGTTTGCTATGTCTGC...
NM_001282649.2:c.693_694insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001269578.1:p.Ala231_Asp232insCysAsnLysLysPheAlaMetSerAlaG...
NM_001282650.2:c.915_916insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001269579.1:p.Ala305_Asp306insCysAsnLysLysPheAlaMetSerAlaG...
NM_001282651.2:c.960_961insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001269580.1:p.Ala320_Asp321insCysAsnLysLysPheAlaMetSerAlaG...
NM_001282648.2:c.355-141_355-140insTGTAATAAGAAGTTTGCTATGTCTGCCGAAGAAACTTTGGCTACGATACAGACACTTTACGAACGTAAACTGACGACTTATCCTCGTGTAGATACGACCTATCTGAGTGATGATATTTATCCTAAGGTA NP_001269577.1:n.355-141_355-140insTGTAATAAGAAGTTTGCTATGTCTGC...