Canonical Allele Identifier: CA129084549
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2025124
ClinVar RCV Id: RCV002848205
dbSNP Id: rs753490868
gnomAD v2: 5-149360812-A-G
gnomAD v4: 5-149981249-A-G
MyVariant Identifiers: chr5:g.149360812A>G (hg19) chr5:g.149981249A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981249A>G , CM000667.2:g.149981249A>G GRCh38
NC_000005.9:g.149360812A>G , CM000667.1:g.149360812A>G GRCh37
NC_000005.8:g.149341005A>G NCBI36
NG_007147.2:g.22367A>G , LRG_684:g.22367A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1656A>G MANE Select ENSP00000286298.4:p.Ser552=
ENST00000286298.4:c.1656A>G ENSP00000286298.4:p.Ser552=
ENST00000503336.1:c.372+2898A>G ENSP00000426053.1:n.372+2898A>G
NM_000112.3:c.1656A>G , LRG_684t1:c.1656A>G NP_000103.2:p.Ser552=
XM_017009191.2:c.1656A>G XP_016864680.1:p.Ser552=
NM_000112.4:c.1656A>G MANE Select NP_000103.2:p.Ser552=
Search 100 bp 5'
Search 100 bp 3'