Canonical Allele Identifier: CA361708718
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1462113
ClinVar RCV Id: RCV001954185
dbSNP Id: rs2113699190

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981352C>T , CM000667.2:g.149981352C>T GRCh38
NC_000005.9:g.149360915C>T , CM000667.1:g.149360915C>T GRCh37
NC_000005.8:g.149341108C>T NCBI36
NG_007147.2:g.22470C>T , LRG_684:g.22470C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1759C>T MANE Select ENSP00000286298.4:p.Leu587Phe
ENST00000286298.4:c.1759C>T ENSP00000286298.4:p.Leu587Phe
ENST00000503336.1:c.372+3001C>T ENSP00000426053.1:n.372+3001C>T
NM_000112.3:c.1759C>T , LRG_684t1:c.1759C>T NP_000103.2:p.Leu587Phe
XM_017009191.2:c.1759C>T XP_016864680.1:p.Leu587Phe
NM_000112.4:c.1759C>T MANE Select NP_000103.2:p.Leu587Phe