Canonical Allele Identifier: CA361708772
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981374G>T , CM000667.2:g.149981374G>T GRCh38
NC_000005.9:g.149360937G>T , CM000667.1:g.149360937G>T GRCh37
NC_000005.8:g.149341130G>T NCBI36
NG_007147.2:g.22492G>T , LRG_684:g.22492G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1781G>T MANE Select ENSP00000286298.4:p.Cys594Phe
ENST00000286298.4:c.1781G>T ENSP00000286298.4:p.Cys594Phe
ENST00000503336.1:c.372+3023G>T ENSP00000426053.1:n.372+3023G>T
NM_000112.3:c.1781G>T , LRG_684t1:c.1781G>T NP_000103.2:p.Cys594Phe
XM_017009191.2:c.1781G>T XP_016864680.1:p.Cys594Phe
NM_000112.4:c.1781G>T MANE Select NP_000103.2:p.Cys594Phe