Canonical Allele Identifier: CA3505348
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1102874
ClinVar RCV Id: RCV001426332
dbSNP Id: rs368422840
ExAC: 5:149360038 C / T
gnomAD v2: 5-149360038-C-T
gnomAD v3: 5-149980475-C-T
gnomAD v4: 5-149980475-C-T
COSMIC: COSM3852694
MyVariant Identifiers: chr5:g.149360038C>T (hg19) chr5:g.149980475C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980475C>T , CM000667.2:g.149980475C>T GRCh38
NC_000005.9:g.149360038C>T , CM000667.1:g.149360038C>T GRCh37
NC_000005.8:g.149340231C>T NCBI36
NG_007147.2:g.21593C>T , LRG_684:g.21593C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.882C>T MANE Select ENSP00000286298.4:p.Phe294=
ENST00000286298.4:c.882C>T ENSP00000286298.4:p.Phe294=
ENST00000503336.1:c.372+2124C>T ENSP00000426053.1:n.372+2124C>T
NM_000112.3:c.882C>T , LRG_684t1:c.882C>T NP_000103.2:p.Phe294=
XM_017009191.2:c.882C>T XP_016864680.1:p.Phe294=
NM_000112.4:c.882C>T MANE Select NP_000103.2:p.Phe294=
Search 100 bp 5'
Search 100 bp 3'