Canonical Allele Identifier: CA361704903
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1319561
ClinVar RCV Id: RCV002276889 RCV003237558
dbSNP Id: rs1755026324
gnomAD v4: 5-149978047-T-C
MyVariant Identifiers: chr5:g.149357610T>C (hg19) chr5:g.149978047T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978047T>C , CM000667.2:g.149978047T>C GRCh38
NC_000005.9:g.149357610T>C , CM000667.1:g.149357610T>C GRCh37
NC_000005.8:g.149337803T>C NCBI36
NG_007147.2:g.19165T>C , LRG_684:g.19165T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.627T>C
ENST00000286298.5:c.395T>C MANE Select ENSP00000286298.4:p.Leu132Pro
ENST00000286298.4:c.395T>C ENSP00000286298.4:p.Leu132Pro
ENST00000503336.1:c.68T>C ENSP00000426053.1:p.Leu23Pro
NM_000112.3:c.395T>C , LRG_684t1:c.395T>C NP_000103.2:p.Leu132Pro
XM_017009191.2:c.395T>C XP_016864680.1:p.Leu132Pro
NM_000112.4:c.395T>C MANE Select NP_000103.2:p.Leu132Pro
Search 100 bp 5'
Search 100 bp 3'