Canonical Allele Identifier: CA3505498
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040294
ClinVar RCV Id: RCV001343906
dbSNP Id: rs767618201
ExAC: 5:149360972 C / A
gnomAD v2: 5-149360972-C-A
MyVariant Identifiers: chr5:g.149360972C>A (hg19) chr5:g.149981409C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981409C>A , CM000667.2:g.149981409C>A GRCh38
NC_000005.9:g.149360972C>A , CM000667.1:g.149360972C>A GRCh37
NC_000005.8:g.149341165C>A NCBI36
NG_007147.2:g.22527C>A , LRG_684:g.22527C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1816C>A MANE Select ENSP00000286298.4:p.Pro606Thr
ENST00000286298.4:c.1816C>A ENSP00000286298.4:p.Pro606Thr
ENST00000503336.1:c.372+3058C>A ENSP00000426053.1:n.372+3058C>A
NM_000112.3:c.1816C>A , LRG_684t1:c.1816C>A NP_000103.2:p.Pro606Thr
XM_017009191.2:c.1816C>A XP_016864680.1:p.Pro606Thr
NM_000112.4:c.1816C>A MANE Select NP_000103.2:p.Pro606Thr
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