Canonical Allele Identifier: CA447401890
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1649393
ClinVar RCV Id: RCV002144236
dbSNP Id: rs1304914344
gnomAD v4: 5-149978042-C-T
MyVariant Identifiers: chr5:g.149357605C>T (hg19) chr5:g.149978042C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978042C>T , CM000667.2:g.149978042C>T GRCh38
NC_000005.9:g.149357605C>T , CM000667.1:g.149357605C>T GRCh37
NC_000005.8:g.149337798C>T NCBI36
NG_007147.2:g.19160C>T , LRG_684:g.19160C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.622C>T
ENST00000286298.5:c.390C>T MANE Select ENSP00000286298.4:p.Ser130=
ENST00000286298.4:c.390C>T ENSP00000286298.4:p.Ser130=
ENST00000503336.1:c.63C>T ENSP00000426053.1:p.Ser21=
NM_000112.3:c.390C>T , LRG_684t1:c.390C>T NP_000103.2:p.Ser130=
XM_017009191.2:c.390C>T XP_016864680.1:p.Ser130=
NM_000112.4:c.390C>T MANE Select NP_000103.2:p.Ser130=
Search 100 bp 5'
Search 100 bp 3'