Canonical Allele Identifier: CA447402959
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2922565
ClinVar RCV Id: RCV003787731
dbSNP Id: rs1409536324
gnomAD v2: 5-149361115-C-T
gnomAD v4: 5-149981552-C-T
MyVariant Identifiers: chr5:g.149361115C>T (hg19) chr5:g.149981552C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981552C>T , CM000667.2:g.149981552C>T GRCh38
NC_000005.9:g.149361115C>T , CM000667.1:g.149361115C>T GRCh37
NC_000005.8:g.149341308C>T NCBI36
NG_007147.2:g.22670C>T , LRG_684:g.22670C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1959C>T MANE Select ENSP00000286298.4:p.Cys653=
ENST00000286298.4:c.1959C>T ENSP00000286298.4:p.Cys653=
ENST00000503336.1:c.372+3201C>T ENSP00000426053.1:n.372+3201C>T
NM_000112.3:c.1959C>T , LRG_684t1:c.1959C>T NP_000103.2:p.Cys653=
XM_017009191.2:c.1959C>T XP_016864680.1:p.Cys653=
NM_000112.4:c.1959C>T MANE Select NP_000103.2:p.Cys653=
Search 100 bp 5'
Search 100 bp 3'