Canonical Allele Identifier: CA2580614770
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2098084
ClinVar RCV Id: RCV003030764
gnomAD v4: 5-149981391-TACAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981398_149981401del , CM000667.2:g.149981398_149981401del GRCh38
NC_000005.9:g.149360961_149360964del , CM000667.1:g.149360961_149360964del GRCh37
NC_000005.8:g.149341154_149341157del NCBI36
NG_007147.2:g.22516_22519del , LRG_684:g.22516_22519del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1805_1808del MANE Select ENSP00000286298.4:p.Gln602LeufsTer6
ENST00000286298.4:c.1805_1808del ENSP00000286298.4:p.Gln602LeufsTer6
ENST00000503336.1:c.372+3047_372+3050del ENSP00000426053.1:n.372+3047_372+3050del
NM_000112.3:c.1805_1808del , LRG_684t1:c.1805_1808del NP_000103.2:p.Gln602LeufsTer6
XM_017009191.2:c.1805_1808del XP_016864680.1:p.Gln602LeufsTer6
NM_000112.4:c.1805_1808del MANE Select NP_000103.2:p.Gln602LeufsTer6
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