Canonical Allele Identifier: CA2573139281
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452846
ClinVar RCV Id: RCV002000005
dbSNP Id: rs2113699214
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981365del , CM000667.2:g.149981365del GRCh38
NC_000005.9:g.149360928del , CM000667.1:g.149360928del GRCh37
NC_000005.8:g.149341121del NCBI36
NG_007147.2:g.22483del , LRG_684:g.22483del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1772del MANE Select ENSP00000286298.4:p.Asn591ThrfsTer18
ENST00000286298.4:c.1772del ENSP00000286298.4:p.Asn591ThrfsTer18
ENST00000503336.1:c.372+3014del ENSP00000426053.1:n.372+3014del
NM_000112.3:c.1772del , LRG_684t1:c.1772del NP_000103.2:p.Asn591ThrfsTer18
XM_017009191.2:c.1772del XP_016864680.1:p.Asn591ThrfsTer18
NM_000112.4:c.1772del MANE Select NP_000103.2:p.Asn591ThrfsTer18
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