Canonical Allele Identifier: CA263252
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 56015
ClinVar RCV Id: RCV000049424
dbSNP Id: rs386833496

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981044G>A , CM000667.2:g.149981044G>A GRCh38
NC_000005.9:g.149360607G>A , CM000667.1:g.149360607G>A GRCh37
NC_000005.8:g.149340800G>A NCBI36
NG_007147.2:g.22162G>A , LRG_684:g.22162G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1451G>A MANE Select ENSP00000286298.4:p.Gly484Asp
ENST00000286298.4:c.1451G>A ENSP00000286298.4:p.Gly484Asp
ENST00000503336.1:c.372+2693G>A ENSP00000426053.1:n.372+2693G>A
NM_000112.3:c.1451G>A , LRG_684t1:c.1451G>A NP_000103.2:p.Gly484Asp
XM_017009191.2:c.1451G>A XP_016864680.1:p.Gly484Asp
NM_000112.4:c.1451G>A MANE Select NP_000103.2:p.Gly484Asp