Canonical Allele Identifier: CA3505525
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371722
ClinVar RCV Id: RCV000410080 RCV000410977 RCV000411126 RCV000412036 RCV001389674
dbSNP Id: rs762137330
ExAC: 5:149361137 AC / A
gnomAD v2: 5-149361137-AC-A
gnomAD v4: 5-149981574-AC-A
MyVariant Identifiers: chr5:g.149361138del (hg19) chr5:g.149981575del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981575del , CM000667.2:g.149981575del GRCh38
NC_000005.9:g.149361138del , CM000667.1:g.149361138del GRCh37
NC_000005.8:g.149341331del NCBI36
NG_007147.2:g.22693del , LRG_684:g.22693del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1982del MANE Select ENSP00000286298.4:p.Thr661LysfsTer7
ENST00000286298.4:c.1982del ENSP00000286298.4:p.Thr661LysfsTer7
ENST00000503336.1:c.372+3224del ENSP00000426053.1:n.372+3224del
NM_000112.3:c.1982del , LRG_684t1:c.1982del NP_000103.2:p.Thr661LysfsTer7
XM_017009191.2:c.1982del XP_016864680.1:p.Thr661LysfsTer7
NM_000112.4:c.1982del MANE Select NP_000103.2:p.Thr661LysfsTer7
Search 100 bp 5'
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