Canonical Allele Identifier: CA263260
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 56022
ClinVar RCV Id: RCV000049431
dbSNP Id: rs386833503

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977983G>T , CM000667.2:g.149977983G>T GRCh38
NC_000005.9:g.149357546G>T , CM000667.1:g.149357546G>T GRCh37
NC_000005.8:g.149337739G>T NCBI36
NG_007147.2:g.19101G>T , LRG_684:g.19101G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.563G>T
ENST00000286298.5:c.331G>T MANE Select ENSP00000286298.4:p.Asp111Tyr
ENST00000286298.4:c.331G>T ENSP00000286298.4:p.Asp111Tyr
ENST00000503336.1:c.4G>T ENSP00000426053.1:p.Asp2Tyr
NM_000112.3:c.331G>T , LRG_684t1:c.331G>T NP_000103.2:p.Asp111Tyr
XM_017009191.2:c.331G>T XP_016864680.1:p.Asp111Tyr
NM_000112.4:c.331G>T MANE Select NP_000103.2:p.Asp111Tyr