Canonical Allele Identifier: CA361705172

Gene: SLC26A2

Linked Data

• dbSNP Id: rs1755029499
• MyVariant Identifiers: chr5:g.149357739C>G (hg19) ; chr5:g.149978176C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149978176C>G , CM000667.2:g.149978176C>G	GRCh38
NC_000005.9:g.149357739C>G , CM000667.1:g.149357739C>G	GRCh37
NC_000005.8:g.149337932C>G	NCBI36
NG_007147.2:g.19294C>G , LRG_684:g.19294C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.756C>G
ENST00000286298.5:c.524C>G MANE Select	ENSP00000286298.4:p.Thr175Arg
ENST00000286298.4:c.524C>G	ENSP00000286298.4:p.Thr175Arg
ENST00000503336.1:c.197C>G	ENSP00000426053.1:p.Thr66Arg
NM_000112.3:c.524C>G , LRG_684t1:c.524C>G	NP_000103.2:p.Thr175Arg
XM_017009191.2:c.524C>G	XP_016864680.1:p.Thr175Arg
NM_000112.4:c.524C>G MANE Select	NP_000103.2:p.Thr175Arg