Canonical Allele Identifier: CA447402236
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2946538
ClinVar RCV Id: RCV003808776
dbSNP Id: rs1158219119
gnomAD v2: 5-149360176-T-C
gnomAD v4: 5-149980613-T-C
MyVariant Identifiers: chr5:g.149360176T>C (hg19) chr5:g.149980613T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980613T>C , CM000667.2:g.149980613T>C GRCh38
NC_000005.9:g.149360176T>C , CM000667.1:g.149360176T>C GRCh37
NC_000005.8:g.149340369T>C NCBI36
NG_007147.2:g.21731T>C , LRG_684:g.21731T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1020T>C MANE Select ENSP00000286298.4:p.Val340=
ENST00000286298.4:c.1020T>C ENSP00000286298.4:p.Val340=
ENST00000503336.1:c.372+2262T>C ENSP00000426053.1:n.372+2262T>C
NM_000112.3:c.1020T>C , LRG_684t1:c.1020T>C NP_000103.2:p.Val340=
XM_017009191.2:c.1020T>C XP_016864680.1:p.Val340=
NM_000112.4:c.1020T>C MANE Select NP_000103.2:p.Val340=
Search 100 bp 5'
Search 100 bp 3'