Canonical Allele Identifier: CA10406124
Community Standard Title: NM_005660.3(SLC35A2):c.485G>A (p.Arg162His)
Gene: SLC35A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48905424C>T , CM000685.2:g.48905424C>T GRCh38
NC_000023.10:g.48762701C>T , CM000685.1:g.48762701C>T GRCh37
NC_000023.9:g.48647645C>T NCBI36
NG_034300.1:g.11535G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005660.3:c.485G>A MANE Select NP_005651.1:p.Arg162His
ENST00000247138.11:c.485G>A MANE Select ENSP00000247138.5:p.Arg162His
NM_001032289.2:c.427-532G>A NP_001027460.1:n.427-532G>A
NM_001032289.3:c.427-532G>A NP_001027460.1:n.427-532G>A
NM_001042498.2:c.485G>A NP_001035963.1:p.Arg162His
NM_001042498.3:c.485G>A NP_001035963.1:p.Arg162His
NM_001282647.1:c.427-532G>A NP_001269576.1:n.427-532G>A
NM_001282647.2:c.427-532G>A NP_001269576.1:n.427-532G>A
NM_001282648.1:c.355-532G>A NP_001269577.1:n.355-532G>A
NM_001282648.2:c.355-532G>A NP_001269577.1:n.355-532G>A
NM_001282649.1:c.302G>A NP_001269578.1:p.Arg101His
NM_001282649.2:c.302G>A NP_001269578.1:p.Arg101His
NM_001282650.1:c.524G>A NP_001269579.1:p.Arg175His
NM_001282650.2:c.524G>A NP_001269579.1:p.Arg175His
NM_001282651.1:c.569G>A NP_001269580.1:p.Arg190His
NM_001282651.2:c.569G>A NP_001269580.1:p.Arg190His
NM_005660.2:c.485G>A NP_005651.1:p.Arg162His
ENST00000247138.10:c.485G>A ENSP00000247138.5:p.Arg162His
ENST00000376515.8:c.355-532G>A ENSP00000365698.3:n.355-532G>A
ENST00000376521.6:c.485G>A ENSP00000365704.1:p.Arg162His
ENST00000376529.8:c.427-532G>A ENSP00000365712.3:n.427-532G>A
ENST00000413561.7:c.212-165G>A
ENST00000445167.7:c.427-532G>A ENSP00000402726.2:n.427-532G>A
ENST00000446885.1:c.269G>A ENSP00000415518.1:p.Arg90His
ENST00000452555.7:c.569G>A ENSP00000416002.2:p.Arg190His
ENST00000616181.5:c.524G>A ENSP00000478617.1:p.Arg175His
ENST00000634665.1:c.*105G>A ENSP00000489356.1:n.*105G>A
ENST00000635238.1:c.446G>A ENSP00000489515.1:p.Arg149His
ENST00000635285.1:c.485G>A ENSP00000489484.1:p.Arg162His
ENST00000635460.1:c.424+968G>A
ENST00000635589.1:c.302G>A ENSP00000489197.1:p.Arg101His
ENST00000635628.1:c.*379G>A ENSP00000489613.1:n.*379G>A