Canonical Allele Identifier: CA1590738885
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 977711
ClinVar RCV Id: RCV001255525
dbSNP Id: rs1755106202
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981662_149981663del , CM000667.2:g.149981662_149981663del GRCh38
NC_000005.9:g.149361225_149361226del , CM000667.1:g.149361225_149361226del GRCh37
NC_000005.8:g.149341418_149341419del NCBI36
NG_007147.2:g.22780_22781del , LRG_684:g.22780_22781del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2069_2070del MANE Select ENSP00000286298.4:p.Val690GlufsTer21
ENST00000286298.4:c.2069_2070del ENSP00000286298.4:p.Val690GlufsTer21
ENST00000503336.1:c.372+3311_372+3312del ENSP00000426053.1:n.372+3311_372+3312del
NM_000112.3:c.2069_2070del , LRG_684t1:c.2069_2070del NP_000103.2:p.Val690GlufsTer21
XM_017009191.2:c.2069_2070del XP_016864680.1:p.Val690GlufsTer21
NM_000112.4:c.2069_2070del MANE Select NP_000103.2:p.Val690GlufsTer21
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