Canonical Allele Identifier: CA3505282
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2083653
ClinVar RCV Id: RCV003002701
dbSNP Id: rs764878581
ExAC: 5:149357832 A / G
gnomAD v2: 5-149357832-A-G
gnomAD v3: 5-149978269-A-G
gnomAD v4: 5-149978269-A-G
MyVariant Identifiers: chr5:g.149357832A>G (hg19) chr5:g.149978269A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978269A>G , CM000667.2:g.149978269A>G GRCh38
NC_000005.9:g.149357832A>G , CM000667.1:g.149357832A>G GRCh37
NC_000005.8:g.149338025A>G NCBI36
NG_007147.2:g.19387A>G , LRG_684:g.19387A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.849A>G
ENST00000286298.5:c.617A>G MANE Select ENSP00000286298.4:p.His206Arg
ENST00000286298.4:c.617A>G ENSP00000286298.4:p.His206Arg
ENST00000503336.1:c.290A>G ENSP00000426053.1:p.His97Arg
NM_000112.3:c.617A>G , LRG_684t1:c.617A>G NP_000103.2:p.His206Arg
XM_017009191.2:c.617A>G XP_016864680.1:p.His206Arg
NM_000112.4:c.617A>G MANE Select NP_000103.2:p.His206Arg
Search 100 bp 5'
Search 100 bp 3'