Canonical Allele Identifier: CA361705520
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978337G>A , CM000667.2:g.149978337G>A GRCh38
NC_000005.9:g.149357900G>A , CM000667.1:g.149357900G>A GRCh37
NC_000005.8:g.149338093G>A NCBI36
NG_007147.2:g.19455G>A , LRG_684:g.19455G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.917G>A
ENST00000286298.5:c.685G>A MANE Select ENSP00000286298.4:p.Ala229Thr
ENST00000286298.4:c.685G>A ENSP00000286298.4:p.Ala229Thr
ENST00000503336.1:c.358G>A ENSP00000426053.1:p.Ala120Thr
NM_000112.3:c.685G>A , LRG_684t1:c.685G>A NP_000103.2:p.Ala229Thr
XM_017009191.2:c.685G>A XP_016864680.1:p.Ala229Thr
NM_000112.4:c.685G>A MANE Select NP_000103.2:p.Ala229Thr