Canonical Allele Identifier: CA243097
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 196211
dbSNP Id: rs116302615

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980580T>C , CM000667.2:g.149980580T>C GRCh38
NC_000005.9:g.149360143T>C , CM000667.1:g.149360143T>C GRCh37
NC_000005.8:g.149340336T>C NCBI36
NG_007147.2:g.21698T>C , LRG_684:g.21698T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.987T>C MANE Select ENSP00000286298.4:p.Leu329=
ENST00000286298.4:c.987T>C ENSP00000286298.4:p.Leu329=
ENST00000503336.1:c.372+2229T>C ENSP00000426053.1:n.372+2229T>C
NM_000112.3:c.987T>C , LRG_684t1:c.987T>C NP_000103.2:p.Leu329=
XM_017009191.2:c.987T>C XP_016864680.1:p.Leu329=
NM_000112.4:c.987T>C MANE Select NP_000103.2:p.Leu329=