Canonical Allele Identifier: CA3505424
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 835924
ClinVar RCV Id: RCV001036925
dbSNP Id: rs771098555
ExAC: 5:149360499 C / G
gnomAD v2: 5-149360499-C-G
gnomAD v3: 5-149980936-C-G
gnomAD v4: 5-149980936-C-G
MyVariant Identifiers: chr5:g.149360499C>G (hg19) chr5:g.149980936C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980936C>G , CM000667.2:g.149980936C>G GRCh38
NC_000005.9:g.149360499C>G , CM000667.1:g.149360499C>G GRCh37
NC_000005.8:g.149340692C>G NCBI36
NG_007147.2:g.22054C>G , LRG_684:g.22054C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1343C>G MANE Select ENSP00000286298.4:p.Ser448Ter
ENST00000286298.4:c.1343C>G ENSP00000286298.4:p.Ser448Ter
ENST00000503336.1:c.372+2585C>G ENSP00000426053.1:n.372+2585C>G
NM_000112.3:c.1343C>G , LRG_684t1:c.1343C>G NP_000103.2:p.Ser448Ter
XM_017009191.2:c.1343C>G XP_016864680.1:p.Ser448Ter
NM_000112.4:c.1343C>G MANE Select NP_000103.2:p.Ser448Ter
Search 100 bp 5'
Search 100 bp 3'