Canonical Allele Identifier: CA447401660
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1159080
ClinVar RCV Id: RCV001502675
dbSNP Id: rs376023150
MyVariant Identifiers: chr5:g.149357332C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977769C>T , CM000667.2:g.149977769C>T GRCh38
NC_000005.9:g.149357332C>T , CM000667.1:g.149357332C>T GRCh37
NC_000005.8:g.149337525C>T NCBI36
NG_007147.2:g.18887C>T , LRG_684:g.18887C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.349C>T
ENST00000286298.5:c.117C>T MANE Select ENSP00000286298.4:p.Phe39=
ENST00000286298.4:c.117C>T ENSP00000286298.4:p.Phe39=
NM_000112.3:c.117C>T , LRG_684t1:c.117C>T NP_000103.2:p.Phe39=
XM_017009191.2:c.117C>T XP_016864680.1:p.Phe39=
NM_000112.4:c.117C>T MANE Select NP_000103.2:p.Phe39=
Search 100 bp 5'
Search 100 bp 3'