Canonical Allele Identifier: CA641902149
Gene: SLC35A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1096843
ClinVar RCV Id: RCV001418201
dbSNP Id: rs782439562

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48904847_48904852dup , CM000685.2:g.48904847_48904852dup GRCh38
NC_000023.10:g.48762124_48762129dup , CM000685.1:g.48762124_48762129dup GRCh37
NC_000023.9:g.48647068_48647073dup NCBI36
NG_015967.1:g.11930_11935dup
NG_034300.1:g.12114_12119dup

Transcript Alleles

HGVS Amino-acid change
ENST00000247138.11:c.1064_1069dup MANE Select ENSP00000247138.5:p.Ser356_Gly357insAlaSe...
ENST00000247138.10:c.1064_1069dup ENSP00000247138.5:p.Ser356_Gly357insAlaSe...
ENST00000376515.8:c.402_407dup ENSP00000365698.3:p.Arg136_Ala137insLeuAr...
ENST00000376521.6:c.1064_1069dup ENSP00000365704.1:p.Ser356_Gly357insAlaSe...
ENST00000376529.8:c.474_479dup ENSP00000365712.3:p.Arg160_Ala161insLeuAr...
ENST00000413561.7:c.626_631dup
ENST00000445167.7:c.474_479dup ENSP00000402726.2:p.Arg160_Ala161insLeuAr...
ENST00000452555.7:c.1148_1153dup ENSP00000416002.2:p.Ser384_Gly385insAlaSe...
ENST00000616181.5:c.1103_1108dup ENSP00000478617.1:p.Ser369_Gly370insAlaSe...
ENST00000635285.1:c.1064_1069dup ENSP00000489484.1:p.Ser356_Gly357insAlaSe...
ENST00000635460.1:c.425-1380_425-1375dup
ENST00000635589.1:c.881_886dup ENSP00000489197.1:p.Ser295_Gly296insAlaSe...
ENST00000635628.1:c.*958_*963dup ENSP00000489613.1:n.*958_*963dup
NM_001032289.2:c.474_479dup NP_001027460.1:p.Arg160_Ala161insLeuArg
NM_001042498.2:c.1064_1069dup NP_001035963.1:p.Ser356_Gly357insAlaSer
NM_001282647.1:c.474_479dup NP_001269576.1:p.Arg160_Ala161insLeuArg
NM_001282648.1:c.402_407dup NP_001269577.1:p.Arg136_Ala137insLeuArg
NM_001282649.1:c.881_886dup NP_001269578.1:p.Ser295_Gly296insAlaSer
NM_001282650.1:c.1103_1108dup NP_001269579.1:p.Ser369_Gly370insAlaSer
NM_001282651.1:c.1148_1153dup NP_001269580.1:p.Ser384_Gly385insAlaSer
NM_005660.2:c.1064_1069dup NP_005651.1:p.Ser356_Gly357insAlaSer
NM_005660.3:c.1064_1069dup MANE Select NP_005651.1:p.Ser356_Gly357insAlaSer
NM_001032289.3:c.474_479dup NP_001027460.1:p.Arg160_Ala161insLeuArg
NM_001042498.3:c.1064_1069dup NP_001035963.1:p.Ser356_Gly357insAlaSer
NM_001282647.2:c.474_479dup NP_001269576.1:p.Arg160_Ala161insLeuArg
NM_001282649.2:c.881_886dup NP_001269578.1:p.Ser295_Gly296insAlaSer
NM_001282650.2:c.1103_1108dup NP_001269579.1:p.Ser369_Gly370insAlaSer
NM_001282651.2:c.1148_1153dup NP_001269580.1:p.Ser384_Gly385insAlaSer
NM_001282648.2:c.402_407dup NP_001269577.1:p.Arg136_Ala137insLeuArg