Canonical Allele Identifier: CA2573052455
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331381
ClinVar RCV Id: RCV001806725 RCV001869490
dbSNP Id: rs2113699627
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981625_149981626delinsCT , CM000667.2:g.149981625_149981626delinsCT GRCh38
NC_000005.9:g.149361188_149361189delinsCT , CM000667.1:g.149361188_149361189delinsCT GRCh37
NC_000005.8:g.149341381_149341382delinsCT NCBI36
NG_007147.2:g.22743_22744delinsCT , LRG_684:g.22743_22744delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.2032_2033delinsCT MANE Select ENSP00000286298.4:p.Gly678Leu
ENST00000286298.4:c.2032_2033delinsCT ENSP00000286298.4:p.Gly678Leu
ENST00000503336.1:c.372+3274_372+3275delinsCT ENSP00000426053.1:n.372+3274_372+3275deli...
NM_000112.3:c.2032_2033delinsCT , LRG_684t1:c.2032_2033delinsCT NP_000103.2:p.Gly678Leu
XM_017009191.2:c.2032_2033delinsCT XP_016864680.1:p.Gly678Leu
NM_000112.4:c.2032_2033delinsCT MANE Select NP_000103.2:p.Gly678Leu
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