Canonical Allele Identifier: CA216022
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64384
ClinVar RCV Id: RCV000054571
dbSNP Id: rs387907492
MyVariant Identifiers: chr5:g.149360954T>C (hg19) chr5:g.149981391T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981391T>C , CM000667.2:g.149981391T>C GRCh38
NC_000005.9:g.149360954T>C , CM000667.1:g.149360954T>C GRCh37
NC_000005.8:g.149341147T>C NCBI36
NG_007147.2:g.22509T>C , LRG_684:g.22509T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1798T>C MANE Select ENSP00000286298.4:p.Tyr600His
ENST00000286298.4:c.1798T>C ENSP00000286298.4:p.Tyr600His
ENST00000503336.1:c.372+3040T>C ENSP00000426053.1:n.372+3040T>C
NM_000112.3:c.1798T>C , LRG_684t1:c.1798T>C NP_000103.2:p.Tyr600His
XM_017009191.2:c.1798T>C XP_016864680.1:p.Tyr600His
NM_000112.4:c.1798T>C MANE Select NP_000103.2:p.Tyr600His
Search 100 bp 5'
Search 100 bp 3'