Canonical Allele Identifier: CA216025
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64385
ClinVar RCV Id: RCV000054572
dbSNP Id: rs387907490
MyVariant Identifiers: chr5:g.149361152A>G (hg19) chr5:g.149981589A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981589A>G , CM000667.2:g.149981589A>G GRCh38
NC_000005.9:g.149361152A>G , CM000667.1:g.149361152A>G GRCh37
NC_000005.8:g.149341345A>G NCBI36
NG_007147.2:g.22707A>G , LRG_684:g.22707A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1996A>G MANE Select ENSP00000286298.4:p.Thr666Ala
ENST00000286298.4:c.1996A>G ENSP00000286298.4:p.Thr666Ala
ENST00000503336.1:c.372+3238A>G ENSP00000426053.1:n.372+3238A>G
NM_000112.3:c.1996A>G , LRG_684t1:c.1996A>G NP_000103.2:p.Thr666Ala
XM_017009191.2:c.1996A>G XP_016864680.1:p.Thr666Ala
NM_000112.4:c.1996A>G MANE Select NP_000103.2:p.Thr666Ala
Search 100 bp 5'
Search 100 bp 3'