Canonical Allele Identifier: CA3505500
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2196270
ClinVar RCV Id: RCV002633540
dbSNP Id: rs756361392
ExAC: 5:149360975 A / G
gnomAD v2: 5-149360975-A-G
gnomAD v3: 5-149981412-A-G
gnomAD v4: 5-149981412-A-G
MyVariant Identifiers: chr5:g.149360975A>G (hg19) chr5:g.149981412A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981412A>G , CM000667.2:g.149981412A>G GRCh38
NC_000005.9:g.149360975A>G , CM000667.1:g.149360975A>G GRCh37
NC_000005.8:g.149341168A>G NCBI36
NG_007147.2:g.22530A>G , LRG_684:g.22530A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1819A>G MANE Select ENSP00000286298.4:p.Ile607Val
ENST00000286298.4:c.1819A>G ENSP00000286298.4:p.Ile607Val
ENST00000503336.1:c.372+3061A>G ENSP00000426053.1:n.372+3061A>G
NM_000112.3:c.1819A>G , LRG_684t1:c.1819A>G NP_000103.2:p.Ile607Val
XM_017009191.2:c.1819A>G XP_016864680.1:p.Ile607Val
NM_000112.4:c.1819A>G MANE Select NP_000103.2:p.Ile607Val
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