Canonical Allele Identifier: CA361705059
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136342
ClinVar RCV Id: RCV003037127
gnomAD v4: 5-149978121-T-A
MyVariant Identifiers: chr5:g.149357684T>A (hg19) chr5:g.149978121T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978121T>A , CM000667.2:g.149978121T>A GRCh38
NC_000005.9:g.149357684T>A , CM000667.1:g.149357684T>A GRCh37
NC_000005.8:g.149337877T>A NCBI36
NG_007147.2:g.19239T>A , LRG_684:g.19239T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.701T>A
ENST00000286298.5:c.469T>A MANE Select ENSP00000286298.4:p.Ser157Thr
ENST00000286298.4:c.469T>A ENSP00000286298.4:p.Ser157Thr
ENST00000503336.1:c.142T>A ENSP00000426053.1:p.Ser48Thr
NM_000112.3:c.469T>A , LRG_684t1:c.469T>A NP_000103.2:p.Ser157Thr
XM_017009191.2:c.469T>A XP_016864680.1:p.Ser157Thr
NM_000112.4:c.469T>A MANE Select NP_000103.2:p.Ser157Thr
Search 100 bp 5'
Search 100 bp 3'