Canonical Allele Identifier: CA516360049
Gene: SLC35A2 HGNC NCBI

Linked Data

dbSNP Id: rs1442984932
gnomAD v3: X-48905435-G-A
gnomAD v4: X-48905435-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48905435G>A , CM000685.2:g.48905435G>A GRCh38
NC_000023.10:g.48762712G>A , CM000685.1:g.48762712G>A GRCh37
NC_000023.9:g.48647656G>A NCBI36
NG_034300.1:g.11524C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000247138.11:c.474C>T MANE Select ENSP00000247138.5:p.Leu158=
ENST00000247138.10:c.474C>T ENSP00000247138.5:p.Leu158=
ENST00000376515.8:c.355-543C>T ENSP00000365698.3:n.355-543C>T
ENST00000376521.6:c.474C>T ENSP00000365704.1:p.Leu158=
ENST00000376529.8:c.427-543C>T ENSP00000365712.3:n.427-543C>T
ENST00000413561.7:c.212-176C>T
ENST00000445167.7:c.427-543C>T ENSP00000402726.2:n.427-543C>T
ENST00000446885.1:c.258C>T ENSP00000415518.1:p.Leu86=
ENST00000452555.7:c.558C>T ENSP00000416002.2:p.Leu186=
ENST00000616181.5:c.513C>T ENSP00000478617.1:p.Leu171=
ENST00000634665.1:c.*94C>T ENSP00000489356.1:n.*94C>T
ENST00000635238.1:c.435C>T ENSP00000489515.1:p.Leu145=
ENST00000635285.1:c.474C>T ENSP00000489484.1:p.Leu158=
ENST00000635460.1:c.424+957C>T
ENST00000635589.1:c.291C>T ENSP00000489197.1:p.Leu97=
ENST00000635628.1:c.*368C>T ENSP00000489613.1:n.*368C>T
NM_001032289.2:c.427-543C>T NP_001027460.1:n.427-543C>T
NM_001042498.2:c.474C>T NP_001035963.1:p.Leu158=
NM_001282647.1:c.427-543C>T NP_001269576.1:n.427-543C>T
NM_001282648.1:c.355-543C>T NP_001269577.1:n.355-543C>T
NM_001282649.1:c.291C>T NP_001269578.1:p.Leu97=
NM_001282650.1:c.513C>T NP_001269579.1:p.Leu171=
NM_001282651.1:c.558C>T NP_001269580.1:p.Leu186=
NM_005660.2:c.474C>T NP_005651.1:p.Leu158=
NM_005660.3:c.474C>T MANE Select NP_005651.1:p.Leu158=
NM_001032289.3:c.427-543C>T NP_001027460.1:n.427-543C>T
NM_001042498.3:c.474C>T NP_001035963.1:p.Leu158=
NM_001282647.2:c.427-543C>T NP_001269576.1:n.427-543C>T
NM_001282649.2:c.291C>T NP_001269578.1:p.Leu97=
NM_001282650.2:c.513C>T NP_001269579.1:p.Leu171=
NM_001282651.2:c.558C>T NP_001269580.1:p.Leu186=
NM_001282648.2:c.355-543C>T NP_001269577.1:n.355-543C>T