Canonical Allele Identifier: CA3505247
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 656557
ClinVar RCV Id: RCV000813006 RCV003472418
dbSNP Id: rs769859976
ExAC: 5:149357646 C / CT
gnomAD v2: 5-149357646-C-CT
gnomAD v3: 5-149978083-C-CT
gnomAD v4: 5-149978083-C-CT
MyVariant Identifiers: chr5:g.149357646_149357647insT (hg19) chr5:g.149978083_149978084insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978090dup , CM000667.2:g.149978090dup GRCh38
NC_000005.9:g.149357653dup , CM000667.1:g.149357653dup GRCh37
NC_000005.8:g.149337846dup NCBI36
NG_007147.2:g.19208dup , LRG_684:g.19208dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.670dup
ENST00000286298.5:c.438dup MANE Select ENSP00000286298.4:p.Ala147CysfsTer28
ENST00000286298.4:c.438dup ENSP00000286298.4:p.Ala147CysfsTer28
ENST00000503336.1:c.111dup ENSP00000426053.1:p.Ala38CysfsTer28
NM_000112.3:c.438dup , LRG_684t1:c.438dup NP_000103.2:p.Ala147CysfsTer28
XM_017009191.2:c.438dup XP_016864680.1:p.Ala147CysfsTer28
NM_000112.4:c.438dup MANE Select NP_000103.2:p.Ala147CysfsTer28
Search 100 bp 5'
Search 100 bp 3'