Canonical Allele Identifier: CA3505367
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 597348
ClinVar RCV Id: RCV000733431
dbSNP Id: rs765407252

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980596A>G , CM000667.2:g.149980596A>G GRCh38
NC_000005.9:g.149360159A>G , CM000667.1:g.149360159A>G GRCh37
NC_000005.8:g.149340352A>G NCBI36
NG_007147.2:g.21714A>G , LRG_684:g.21714A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1003A>G MANE Select ENSP00000286298.4:p.Ile335Val
ENST00000286298.4:c.1003A>G ENSP00000286298.4:p.Ile335Val
ENST00000503336.1:c.372+2245A>G ENSP00000426053.1:n.372+2245A>G
NM_000112.3:c.1003A>G , LRG_684t1:c.1003A>G NP_000103.2:p.Ile335Val
XM_017009191.2:c.1003A>G XP_016864680.1:p.Ile335Val
NM_000112.4:c.1003A>G MANE Select NP_000103.2:p.Ile335Val