Canonical Allele Identifier: CA1590738662
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981166C= , CM000667.2:g.149981166C= GRCh38
NC_000005.9:g.149360729C= , CM000667.1:g.149360729C= GRCh37
NC_000005.8:g.149340922C= NCBI36
NG_007147.2:g.22284C= , LRG_684:g.22284C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1573C= MANE Select ENSP00000286298.4:p.Leu525=
ENST00000286298.4:c.1573C= ENSP00000286298.4:p.Leu525=
ENST00000503336.1:c.372+2815C= ENSP00000426053.1:n.372+2815C=
NM_000112.3:c.1573C= , LRG_684t1:c.1573C= NP_000103.2:p.Leu525=
XM_017009191.2:c.1573C= XP_016864680.1:p.Leu525=
NM_000112.4:c.1573C= MANE Select NP_000103.2:p.Leu525=