Canonical Allele Identifier: CA361706957
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980601A>C , CM000667.2:g.149980601A>C GRCh38
NC_000005.9:g.149360164A>C , CM000667.1:g.149360164A>C GRCh37
NC_000005.8:g.149340357A>C NCBI36
NG_007147.2:g.21719A>C , LRG_684:g.21719A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1008A>C MANE Select ENSP00000286298.4:p.Glu336Asp
ENST00000286298.4:c.1008A>C ENSP00000286298.4:p.Glu336Asp
ENST00000503336.1:c.372+2250A>C ENSP00000426053.1:n.372+2250A>C
NM_000112.3:c.1008A>C , LRG_684t1:c.1008A>C NP_000103.2:p.Glu336Asp
XM_017009191.2:c.1008A>C XP_016864680.1:p.Glu336Asp
NM_000112.4:c.1008A>C MANE Select NP_000103.2:p.Glu336Asp