Canonical Allele Identifier: CA116646
Gene: SLC26A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4096
dbSNP Id: rs104893921

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980954A>C , CM000667.2:g.149980954A>C GRCh38
NC_000005.9:g.149360517A>C , CM000667.1:g.149360517A>C GRCh37
NC_000005.8:g.149340710A>C NCBI36
NG_007147.2:g.22072A>C , LRG_684:g.22072A>C

Transcript Alleles

HGVS Amino-acid change
NM_000112.3:c.1361A>C , LRG_684t1:c.1361A>C NP_000103.2:p.Gln454Pro
XM_017009191.2:c.1361A>C XP_016864680.1:p.Gln454Pro
ENST00000286298.4:c.1361A>C ENSP00000286298.4:p.Gln454Pro
ENST00000503336.1:n.372+2603A>C ENSP00000426053.1:p.=