Canonical Allele Identifier: CA16041001
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371760
ClinVar RCV Id: RCV000409121 RCV000410720 RCV000410103 RCV000411563
dbSNP Id: rs1057517513
MyVariant Identifiers: chr5:g.149361154_149361155del (hg19) chr5:g.149981591_149981592del (hg38)
PubMed: PMID:26375458
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981591_149981592del , CM000667.2:g.149981591_149981592del GRCh38
NC_000005.9:g.149361154_149361155del , CM000667.1:g.149361154_149361155del GRCh37
NC_000005.8:g.149341347_149341348del NCBI36
NG_007147.2:g.22709_22710del , LRG_684:g.22709_22710del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1998_1999del MANE Select ENSP00000286298.4:p.Leu667GlufsTer8
ENST00000286298.4:c.1998_1999del ENSP00000286298.4:p.Leu667GlufsTer8
ENST00000503336.1:c.372+3240_372+3241del ENSP00000426053.1:n.372+3240_372+3241del
NM_000112.3:c.1998_1999del , LRG_684t1:c.1998_1999del NP_000103.2:p.Leu667GlufsTer8
XM_017009191.2:c.1998_1999del XP_016864680.1:p.Leu667GlufsTer8
NM_000112.4:c.1998_1999del MANE Select NP_000103.2:p.Leu667GlufsTer8
Search 100 bp 5'
Search 100 bp 3'