Canonical Allele Identifier: CA10620833
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 352040
ClinVar RCV Id: RCV000301592 RCV000297995 RCV000343496 RCV000402209 RCV000408278
dbSNP Id: rs886060229
gnomAD v3: 5-149982266-G-A
gnomAD v4: 5-149982266-G-A
MyVariant Identifiers: chr5:g.149361829G>A (hg19) chr5:g.149982266G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149982266G>A , CM000667.2:g.149982266G>A GRCh38
NC_000005.9:g.149361829G>A , CM000667.1:g.149361829G>A GRCh37
NC_000005.8:g.149342022G>A NCBI36
NG_007147.2:g.23384G>A , LRG_684:g.23384G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*453G>A MANE Select ENSP00000286298.4:n.*453G>A
ENST00000286298.4:c.*453G>A ENSP00000286298.4:n.*453G>A
ENST00000503336.1:c.372+3915G>A ENSP00000426053.1:n.372+3915G>A
NM_000112.3:c.*453G>A , LRG_684t1:c.*453G>A NP_000103.2:n.*453G>A
XM_017009191.2:c.*350G>A XP_016864680.1:n.*350G>A
NM_000112.4:c.*453G>A MANE Select NP_000103.2:n.*453G>A
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