Canonical Allele Identifier: CA361705505
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978331T>A , CM000667.2:g.149978331T>A GRCh38
NC_000005.9:g.149357894T>A , CM000667.1:g.149357894T>A GRCh37
NC_000005.8:g.149338087T>A NCBI36
NG_007147.2:g.19449T>A , LRG_684:g.19449T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.911T>A
ENST00000286298.5:c.679T>A MANE Select ENSP00000286298.4:p.Phe227Ile
ENST00000286298.4:c.679T>A ENSP00000286298.4:p.Phe227Ile
ENST00000503336.1:c.352T>A ENSP00000426053.1:p.Phe118Ile
NM_000112.3:c.679T>A , LRG_684t1:c.679T>A NP_000103.2:p.Phe227Ile
XM_017009191.2:c.679T>A XP_016864680.1:p.Phe227Ile
NM_000112.4:c.679T>A MANE Select NP_000103.2:p.Phe227Ile