Canonical Allele Identifier: CA3505487
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1084440
ClinVar RCV Id: RCV001401461 RCV004531222
dbSNP Id: rs570536938
ExAC: 5:149360932 A / G
gnomAD v2: 5-149360932-A-G
gnomAD v3: 5-149981369-A-G
gnomAD v4: 5-149981369-A-G
MyVariant Identifiers: chr5:g.149360932A>G (hg19) chr5:g.149981369A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981369A>G , CM000667.2:g.149981369A>G GRCh38
NC_000005.9:g.149360932A>G , CM000667.1:g.149360932A>G GRCh37
NC_000005.8:g.149341125A>G NCBI36
NG_007147.2:g.22487A>G , LRG_684:g.22487A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1776A>G MANE Select ENSP00000286298.4:p.Lys592=
ENST00000286298.4:c.1776A>G ENSP00000286298.4:p.Lys592=
ENST00000503336.1:c.372+3018A>G ENSP00000426053.1:n.372+3018A>G
NM_000112.3:c.1776A>G , LRG_684t1:c.1776A>G NP_000103.2:p.Lys592=
XM_017009191.2:c.1776A>G XP_016864680.1:p.Lys592=
NM_000112.4:c.1776A>G MANE Select NP_000103.2:p.Lys592=
Search 100 bp 5'
Search 100 bp 3'