Canonical Allele Identifier: CA361707534
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1348054
ClinVar RCV Id: RCV002050752
dbSNP Id: rs2113698521
MyVariant Identifiers: chr5:g.149360433T>A (hg19) chr5:g.149980870T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980870T>A , CM000667.2:g.149980870T>A GRCh38
NC_000005.9:g.149360433T>A , CM000667.1:g.149360433T>A GRCh37
NC_000005.8:g.149340626T>A NCBI36
NG_007147.2:g.21988T>A , LRG_684:g.21988T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1277T>A MANE Select ENSP00000286298.4:p.Ile426Asn
ENST00000286298.4:c.1277T>A ENSP00000286298.4:p.Ile426Asn
ENST00000503336.1:c.372+2519T>A ENSP00000426053.1:n.372+2519T>A
NM_000112.3:c.1277T>A , LRG_684t1:c.1277T>A NP_000103.2:p.Ile426Asn
XM_017009191.2:c.1277T>A XP_016864680.1:p.Ile426Asn
NM_000112.4:c.1277T>A MANE Select NP_000103.2:p.Ile426Asn
Search 100 bp 5'
Search 100 bp 3'