Canonical Allele Identifier: CA1590738318
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980339C= , CM000667.2:g.149980339C= GRCh38
NC_000005.9:g.149359902C= , CM000667.1:g.149359902C= GRCh37
NC_000005.8:g.149340095C= NCBI36
NG_007147.2:g.21457C= , LRG_684:g.21457C=

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.746C= MANE Select ENSP00000286298.4:p.Ser249=
ENST00000286298.4:c.746C= ENSP00000286298.4:p.Ser249=
ENST00000503336.1:c.372+1988C= ENSP00000426053.1:n.372+1988C=
NM_000112.3:c.746C= , LRG_684t1:c.746C= NP_000103.2:p.Ser249=
XM_017009191.2:c.746C= XP_016864680.1:p.Ser249=
NM_000112.4:c.746C= MANE Select NP_000103.2:p.Ser249=