Canonical Allele Identifier: CA658823314
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 554186
ClinVar RCV Id: RCV000669769 RCV001855528 RCV003472117
dbSNP Id: rs1554095374
gnomAD v4: 5-149981407-AC-A
MyVariant Identifiers: chr5:g.149981410del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981410del , CM000667.2:g.149981410del GRCh38
NC_000005.9:g.149360973del , CM000667.1:g.149360973del GRCh37
NC_000005.8:g.149341166del NCBI36
NG_007147.2:g.22528del , LRG_684:g.22528del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1817del MANE Select ENSP00000286298.4:p.Pro606GlnfsTer3
ENST00000286298.4:c.1817del ENSP00000286298.4:p.Pro606GlnfsTer3
ENST00000503336.1:c.372+3059del ENSP00000426053.1:n.372+3059del
NM_000112.3:c.1817del , LRG_684t1:c.1817del NP_000103.2:p.Pro606GlnfsTer3
XM_017009191.2:c.1817del XP_016864680.1:p.Pro606GlnfsTer3
NM_000112.4:c.1817del MANE Select NP_000103.2:p.Pro606GlnfsTer3
Search 100 bp 5'
Search 100 bp 3'