Canonical Allele Identifier: CA129082682
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1617088
ClinVar RCV Id: RCV002071614
dbSNP Id: rs137932620
gnomAD v4: 5-149978225-T-C
MyVariant Identifiers: chr5:g.149357788T>C (hg19) chr5:g.149978225T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978225T>C , CM000667.2:g.149978225T>C GRCh38
NC_000005.9:g.149357788T>C , CM000667.1:g.149357788T>C GRCh37
NC_000005.8:g.149337981T>C NCBI36
NG_007147.2:g.19343T>C , LRG_684:g.19343T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.805T>C
ENST00000286298.5:c.573T>C MANE Select ENSP00000286298.4:p.Ala191=
ENST00000286298.4:c.573T>C ENSP00000286298.4:p.Ala191=
ENST00000503336.1:c.246T>C ENSP00000426053.1:p.Ala82=
NM_000112.3:c.573T>C , LRG_684t1:c.573T>C NP_000103.2:p.Ala191=
XM_017009191.2:c.573T>C XP_016864680.1:p.Ala191=
NM_000112.4:c.573T>C MANE Select NP_000103.2:p.Ala191=
Search 100 bp 5'
Search 100 bp 3'