Canonical Allele Identifier: CA361706395
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1513795
ClinVar RCV Id: RCV002045999
dbSNP Id: rs114569184
MyVariant Identifiers: chr5:g.149359992G>C (hg19) chr5:g.149980429G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980429G>C , CM000667.2:g.149980429G>C GRCh38
NC_000005.9:g.149359992G>C , CM000667.1:g.149359992G>C GRCh37
NC_000005.8:g.149340185G>C NCBI36
NG_007147.2:g.21547G>C , LRG_684:g.21547G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.836G>C MANE Select ENSP00000286298.4:p.Arg279Pro
ENST00000286298.4:c.836G>C ENSP00000286298.4:p.Arg279Pro
ENST00000503336.1:c.372+2078G>C ENSP00000426053.1:n.372+2078G>C
NM_000112.3:c.836G>C , LRG_684t1:c.836G>C NP_000103.2:p.Arg279Pro
XM_017009191.2:c.836G>C XP_016864680.1:p.Arg279Pro
NM_000112.4:c.836G>C MANE Select NP_000103.2:p.Arg279Pro
Search 100 bp 5'
Search 100 bp 3'