Canonical Allele Identifier: CA361708805
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981386C>A , CM000667.2:g.149981386C>A GRCh38
NC_000005.9:g.149360949C>A , CM000667.1:g.149360949C>A GRCh37
NC_000005.8:g.149341142C>A NCBI36
NG_007147.2:g.22504C>A , LRG_684:g.22504C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1793C>A MANE Select ENSP00000286298.4:p.Ala598Asp
ENST00000286298.4:c.1793C>A ENSP00000286298.4:p.Ala598Asp
ENST00000503336.1:c.372+3035C>A ENSP00000426053.1:n.372+3035C>A
NM_000112.3:c.1793C>A , LRG_684t1:c.1793C>A NP_000103.2:p.Ala598Asp
XM_017009191.2:c.1793C>A XP_016864680.1:p.Ala598Asp
NM_000112.4:c.1793C>A MANE Select NP_000103.2:p.Ala598Asp