Canonical Allele Identifier: CA2573139282
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1388388
ClinVar RCV Id: RCV001886656
dbSNP Id: rs2113699284
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981403_149981404del , CM000667.2:g.149981403_149981404del GRCh38
NC_000005.9:g.149360966_149360967del , CM000667.1:g.149360966_149360967del GRCh37
NC_000005.8:g.149341159_149341160del NCBI36
NG_007147.2:g.22521_22522del , LRG_684:g.22521_22522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1810_1811del MANE Select ENSP00000286298.4:p.Val604GlnfsTer30
ENST00000286298.4:c.1810_1811del ENSP00000286298.4:p.Val604GlnfsTer30
ENST00000503336.1:c.372+3052_372+3053del ENSP00000426053.1:n.372+3052_372+3053del
NM_000112.3:c.1810_1811del , LRG_684t1:c.1810_1811del NP_000103.2:p.Val604GlnfsTer30
XM_017009191.2:c.1810_1811del XP_016864680.1:p.Val604GlnfsTer30
NM_000112.4:c.1810_1811del MANE Select NP_000103.2:p.Val604GlnfsTer30
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