Canonical Allele Identifier: CA129083833
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 903771
ClinVar RCV Id: RCV001151298 RCV001151299 RCV001151300 RCV001151301 RCV001151302
dbSNP Id: rs571410872
gnomAD v2: 5-149360000-G-T
gnomAD v3: 5-149980437-G-T
gnomAD v4: 5-149980437-G-T
MyVariant Identifiers: chr5:g.149360000G>T (hg19) chr5:g.149980437G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980437G>T , CM000667.2:g.149980437G>T GRCh38
NC_000005.9:g.149360000G>T , CM000667.1:g.149360000G>T GRCh37
NC_000005.8:g.149340193G>T NCBI36
NG_007147.2:g.21555G>T , LRG_684:g.21555G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.844G>T MANE Select ENSP00000286298.4:p.Gly282Cys
ENST00000286298.4:c.844G>T ENSP00000286298.4:p.Gly282Cys
ENST00000503336.1:c.372+2086G>T ENSP00000426053.1:n.372+2086G>T
NM_000112.3:c.844G>T , LRG_684t1:c.844G>T NP_000103.2:p.Gly282Cys
XM_017009191.2:c.844G>T XP_016864680.1:p.Gly282Cys
NM_000112.4:c.844G>T MANE Select NP_000103.2:p.Gly282Cys
Search 100 bp 5'
Search 100 bp 3'