Canonical Allele Identifier: CA16040995
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371704
dbSNP Id: rs1057517471

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980904dup , CM000667.2:g.149980904dup GRCh38
NC_000005.9:g.149360467dup , CM000667.1:g.149360467dup GRCh37
NC_000005.8:g.149340660dup NCBI36
NG_007147.2:g.22022dup , LRG_684:g.22022dup

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1311dup MANE Select ENSP00000286298.4:p.Ala438CysfsTer9
ENST00000286298.4:c.1311dup ENSP00000286298.4:p.Ala438CysfsTer9
ENST00000503336.1:c.372+2553dup ENSP00000426053.1:n.372+2553dup
NM_000112.3:c.1311dup , LRG_684t1:c.1311dup NP_000103.2:p.Ala438CysfsTer9
XM_017009191.2:c.1311dup XP_016864680.1:p.Ala438CysfsTer9
NM_000112.4:c.1311dup MANE Select NP_000103.2:p.Ala438CysfsTer9