Canonical Allele Identifier: CA563955702
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2934455
ClinVar RCV Id: RCV003796205
dbSNP Id: rs1454706390
gnomAD v2: 5-149360069-C-CTTATCACCAGCCTT
gnomAD v4: 5-149980506-C-CTTATCACCAGCCTT
MyVariant Identifiers: chr5:g.149360069_149360070insTTATCACCAGCCTT (hg19) chr5:g.149980506_149980507insTTATCACCAGCCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980509_149980522dup , CM000667.2:g.149980509_149980522dup GRCh38
NC_000005.9:g.149360072_149360085dup , CM000667.1:g.149360072_149360085dup GRCh37
NC_000005.8:g.149340265_149340278dup NCBI36
NG_007147.2:g.21627_21640dup , LRG_684:g.21627_21640dup

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.916_929dup MANE Select ENSP00000286298.4:p.Cys311SerfsTer?
ENST00000286298.4:c.916_929dup ENSP00000286298.4:p.Cys311SerfsTer?
ENST00000503336.1:c.372+2158_372+2171dup ENSP00000426053.1:n.372+2158_372+2171dup
NM_000112.3:c.916_929dup , LRG_684t1:c.916_929dup NP_000103.2:p.Cys311SerfsTer?
XM_017009191.2:c.916_929dup XP_016864680.1:p.Cys311SerfsTer?
NM_000112.4:c.916_929dup MANE Select NP_000103.2:p.Cys311SerfsTer?
Search 100 bp 5'
Search 100 bp 3'