Canonical Allele Identifier: CA1590738746
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1683433
ClinVar RCV Id: RCV002238705 RCV003475308
dbSNP Id: rs1755096552
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981366_149981369del , CM000667.2:g.149981366_149981369del GRCh38
NC_000005.9:g.149360929_149360932del , CM000667.1:g.149360929_149360932del GRCh37
NC_000005.8:g.149341122_149341125del NCBI36
NG_007147.2:g.22484_22487del , LRG_684:g.22484_22487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1773_1776del MANE Select ENSP00000286298.4:p.Asn591LysfsTer17
ENST00000286298.4:c.1773_1776del ENSP00000286298.4:p.Asn591LysfsTer17
ENST00000503336.1:c.372+3015_372+3018del ENSP00000426053.1:n.372+3015_372+3018del
NM_000112.3:c.1773_1776del , LRG_684t1:c.1773_1776del NP_000103.2:p.Asn591LysfsTer17
XM_017009191.2:c.1773_1776del XP_016864680.1:p.Asn591LysfsTer17
NM_000112.4:c.1773_1776del MANE Select NP_000103.2:p.Asn591LysfsTer17
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