Canonical Allele Identifier: CA563955668
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678894
ClinVar RCV Id: RCV003472870
dbSNP Id: rs1395122785
gnomAD v2: 5-149357325-CT-C
gnomAD v4: 5-149977762-CT-C
MyVariant Identifiers: chr5:g.149357326del (hg19) chr5:g.149977763del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977763del , CM000667.2:g.149977763del GRCh38
NC_000005.9:g.149357326del , CM000667.1:g.149357326del GRCh37
NC_000005.8:g.149337519del NCBI36
NG_007147.2:g.18881del , LRG_684:g.18881del

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.343del
ENST00000286298.5:c.111del MANE Select ENSP00000286298.4:p.Asp38ThrfsTer?
ENST00000286298.4:c.111del ENSP00000286298.4:p.Asp38ThrfsTer?
NM_000112.3:c.111del , LRG_684t1:c.111del NP_000103.2:p.Asp38ThrfsTer?
XM_017009191.2:c.111del XP_016864680.1:p.Asp38ThrfsTer?
NM_000112.4:c.111del MANE Select NP_000103.2:p.Asp38ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'