Canonical Allele Identifier: CA361704740
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977971A>C , CM000667.2:g.149977971A>C GRCh38
NC_000005.9:g.149357534A>C , CM000667.1:g.149357534A>C GRCh37
NC_000005.8:g.149337727A>C NCBI36
NG_007147.2:g.19089A>C , LRG_684:g.19089A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.551A>C
ENST00000286298.5:c.319A>C MANE Select ENSP00000286298.4:p.Asn107His
ENST00000286298.4:c.319A>C ENSP00000286298.4:p.Asn107His
NM_000112.3:c.319A>C , LRG_684t1:c.319A>C NP_000103.2:p.Asn107His
XM_017009191.2:c.319A>C XP_016864680.1:p.Asn107His
NM_000112.4:c.319A>C MANE Select NP_000103.2:p.Asn107His