Canonical Allele Identifier: CA361705426
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978295A>C , CM000667.2:g.149978295A>C GRCh38
NC_000005.9:g.149357858A>C , CM000667.1:g.149357858A>C GRCh37
NC_000005.8:g.149338051A>C NCBI36
NG_007147.2:g.19413A>C , LRG_684:g.19413A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.875A>C
ENST00000286298.5:c.643A>C MANE Select ENSP00000286298.4:p.Ser215Arg
ENST00000286298.4:c.643A>C ENSP00000286298.4:p.Ser215Arg
ENST00000503336.1:c.316A>C ENSP00000426053.1:p.Ser106Arg
NM_000112.3:c.643A>C , LRG_684t1:c.643A>C NP_000103.2:p.Ser215Arg
XM_017009191.2:c.643A>C XP_016864680.1:p.Ser215Arg
NM_000112.4:c.643A>C MANE Select NP_000103.2:p.Ser215Arg