Canonical Allele Identifier: CA2573139273
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1453606
ClinVar RCV Id: RCV002002498
dbSNP Id: rs2113695746
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977870del , CM000667.2:g.149977870del GRCh38
NC_000005.9:g.149357433del , CM000667.1:g.149357433del GRCh37
NC_000005.8:g.149337626del NCBI36
NG_007147.2:g.18988del , LRG_684:g.18988del

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.450del
ENST00000286298.5:c.218del MANE Select ENSP00000286298.4:p.Lys73SerfsTer16
ENST00000286298.4:c.218del ENSP00000286298.4:p.Lys73SerfsTer16
NM_000112.3:c.218del , LRG_684t1:c.218del NP_000103.2:p.Lys73SerfsTer16
XM_017009191.2:c.218del XP_016864680.1:p.Lys73SerfsTer16
NM_000112.4:c.218del MANE Select NP_000103.2:p.Lys73SerfsTer16
Search 100 bp 5'
Search 100 bp 3'