Canonical Allele Identifier: CA1139659145
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 951956
ClinVar RCV Id: RCV001223969 RCV003473782
dbSNP Id: rs1755100270
gnomAD v4: 5-149981470-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981471del , CM000667.2:g.149981471del GRCh38
NC_000005.9:g.149361034del , CM000667.1:g.149361034del GRCh37
NC_000005.8:g.149341227del NCBI36
NG_007147.2:g.22589del , LRG_684:g.22589del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1878del MANE Select ENSP00000286298.4:p.Thr627LeufsTer23
ENST00000286298.4:c.1878del ENSP00000286298.4:p.Thr627LeufsTer23
ENST00000503336.1:c.372+3120del ENSP00000426053.1:n.372+3120del
NM_000112.3:c.1878del , LRG_684t1:c.1878del NP_000103.2:p.Thr627LeufsTer23
XM_017009191.2:c.1878del XP_016864680.1:p.Thr627LeufsTer23
NM_000112.4:c.1878del MANE Select NP_000103.2:p.Thr627LeufsTer23
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