Canonical Allele Identifier: CA129082524
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs747048231

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978119C>T , CM000667.2:g.149978119C>T GRCh38
NC_000005.9:g.149357682C>T , CM000667.1:g.149357682C>T GRCh37
NC_000005.8:g.149337875C>T NCBI36
NG_007147.2:g.19237C>T , LRG_684:g.19237C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.699C>T
ENST00000286298.5:c.467C>T MANE Select ENSP00000286298.4:p.Thr156Ile
ENST00000286298.4:c.467C>T ENSP00000286298.4:p.Thr156Ile
ENST00000503336.1:c.140C>T ENSP00000426053.1:p.Thr47Ile
NM_000112.3:c.467C>T , LRG_684t1:c.467C>T NP_000103.2:p.Thr156Ile
XM_017009191.2:c.467C>T XP_016864680.1:p.Thr156Ile
NM_000112.4:c.467C>T MANE Select NP_000103.2:p.Thr156Ile