Canonical Allele Identifier: CA361707757
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1321872
ClinVar RCV Id: RCV001779964
dbSNP Id: rs2113698650
gnomAD v4: 5-149980975-C-T
MyVariant Identifiers: chr5:g.149360538C>T (hg19) chr5:g.149980975C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980975C>T , CM000667.2:g.149980975C>T GRCh38
NC_000005.9:g.149360538C>T , CM000667.1:g.149360538C>T GRCh37
NC_000005.8:g.149340731C>T NCBI36
NG_007147.2:g.22093C>T , LRG_684:g.22093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1382C>T MANE Select ENSP00000286298.4:p.Ala461Val
ENST00000286298.4:c.1382C>T ENSP00000286298.4:p.Ala461Val
ENST00000503336.1:c.372+2624C>T ENSP00000426053.1:n.372+2624C>T
NM_000112.3:c.1382C>T , LRG_684t1:c.1382C>T NP_000103.2:p.Ala461Val
XM_017009191.2:c.1382C>T XP_016864680.1:p.Ala461Val
NM_000112.4:c.1382C>T MANE Select NP_000103.2:p.Ala461Val
Search 100 bp 5'
Search 100 bp 3'