Canonical Allele Identifier: CA2695198769
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678879
ClinVar RCV Id: RCV003472855
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981658_149981661delinsTC , CM000667.2:g.149981658_149981661delinsTC GRCh38
NC_000005.9:g.149361221_149361224delinsTC , CM000667.1:g.149361221_149361224delinsTC GRCh37
NC_000005.8:g.149341414_149341417delinsTC NCBI36
NG_007147.2:g.22776_22779delinsTC , LRG_684:g.22776_22779delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2065_2068delinsTC MANE Select ENSP00000286298.4:p.Thr689SerfsTer22
ENST00000286298.4:c.2065_2068delinsTC ENSP00000286298.4:p.Thr689SerfsTer22
ENST00000503336.1:c.372+3307_372+3310delinsTC ENSP00000426053.1:n.372+3307_372+3310delinsTC
NM_000112.3:c.2065_2068delinsTC , LRG_684t1:c.2065_2068delinsTC NP_000103.2:p.Thr689SerfsTer22
XM_017009191.2:c.2065_2068delinsTC XP_016864680.1:p.Thr689SerfsTer22
NM_000112.4:c.2065_2068delinsTC MANE Select NP_000103.2:p.Thr689SerfsTer22
Search 100 bp 5'
Search 100 bp 3'