Canonical Allele Identifier: CA361707506
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2041006
ClinVar RCV Id: RCV002890899
dbSNP Id: rs1449461806
gnomAD v4: 5-149980858-G-C
MyVariant Identifiers: chr5:g.149360421G>C (hg19) chr5:g.149980858G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980858G>C , CM000667.2:g.149980858G>C GRCh38
NC_000005.9:g.149360421G>C , CM000667.1:g.149360421G>C GRCh37
NC_000005.8:g.149340614G>C NCBI36
NG_007147.2:g.21976G>C , LRG_684:g.21976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1265G>C MANE Select ENSP00000286298.4:p.Gly422Ala
ENST00000286298.4:c.1265G>C ENSP00000286298.4:p.Gly422Ala
ENST00000503336.1:c.372+2507G>C ENSP00000426053.1:n.372+2507G>C
NM_000112.3:c.1265G>C , LRG_684t1:c.1265G>C NP_000103.2:p.Gly422Ala
XM_017009191.2:c.1265G>C XP_016864680.1:p.Gly422Ala
NM_000112.4:c.1265G>C MANE Select NP_000103.2:p.Gly422Ala
Search 100 bp 5'
Search 100 bp 3'