Canonical Allele Identifier: CA361705541
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2164286
ClinVar RCV Id: RCV003073566 RCV004073104
dbSNP Id: rs75097996
gnomAD v4: 5-149978347-A-G
MyVariant Identifiers: chr5:g.149357910A>G (hg19) chr5:g.149978347A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978347A>G , CM000667.2:g.149978347A>G GRCh38
NC_000005.9:g.149357910A>G , CM000667.1:g.149357910A>G GRCh37
NC_000005.8:g.149338103A>G NCBI36
NG_007147.2:g.19465A>G , LRG_684:g.19465A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.927A>G
ENST00000286298.5:c.695A>G MANE Select ENSP00000286298.4:p.Tyr232Cys
ENST00000286298.4:c.695A>G ENSP00000286298.4:p.Tyr232Cys
ENST00000503336.1:c.368A>G ENSP00000426053.1:p.Tyr123Cys
NM_000112.3:c.695A>G , LRG_684t1:c.695A>G NP_000103.2:p.Tyr232Cys
XM_017009191.2:c.695A>G XP_016864680.1:p.Tyr232Cys
NM_000112.4:c.695A>G MANE Select NP_000103.2:p.Tyr232Cys
Search 100 bp 5'
Search 100 bp 3'