Canonical Allele Identifier: CA361705421
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978293A>C , CM000667.2:g.149978293A>C GRCh38
NC_000005.9:g.149357856A>C , CM000667.1:g.149357856A>C GRCh37
NC_000005.8:g.149338049A>C NCBI36
NG_007147.2:g.19411A>C , LRG_684:g.19411A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.873A>C
ENST00000286298.5:c.641A>C MANE Select ENSP00000286298.4:p.Lys214Thr
ENST00000286298.4:c.641A>C ENSP00000286298.4:p.Lys214Thr
ENST00000503336.1:c.314A>C ENSP00000426053.1:p.Lys105Thr
NM_000112.3:c.641A>C , LRG_684t1:c.641A>C NP_000103.2:p.Lys214Thr
XM_017009191.2:c.641A>C XP_016864680.1:p.Lys214Thr
NM_000112.4:c.641A>C MANE Select NP_000103.2:p.Lys214Thr