Canonical Allele Identifier: CA16040989
Gene: SLC26A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371684
dbSNP Id: rs1057517461

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978353T>C , CM000667.2:g.149978353T>C GRCh38
NC_000005.9:g.149357916T>C , CM000667.1:g.149357916T>C GRCh37
NC_000005.8:g.149338109T>C NCBI36
NG_007147.2:g.19471T>C , LRG_684:g.19471T>C

Transcript Alleles

HGVS Amino-acid change
NM_000112.3:c.699+2T>C , LRG_684t1:c.699+2T>C NP_000103.2:p.=
XM_017009191.2:c.699+2T>C XP_016864680.1:p.=
ENST00000286298.4:c.699+2T>C ENSP00000286298.4:p.=
ENST00000503336.1:n.372+2T>C ENSP00000426053.1:p.=