Canonical Allele Identifier: CA3505334
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 284353
ClinVar RCV Id: RCV001859600
dbSNP Id: rs571410872
ExAC: 5:149360000 G / C
gnomAD v2: 5-149360000-G-C
gnomAD v3: 5-149980437-G-C
gnomAD v4: 5-149980437-G-C
MyVariant Identifiers: chr5:g.149360000G>C (hg19) chr5:g.149980437G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980437G>C , CM000667.2:g.149980437G>C GRCh38
NC_000005.9:g.149360000G>C , CM000667.1:g.149360000G>C GRCh37
NC_000005.8:g.149340193G>C NCBI36
NG_007147.2:g.21555G>C , LRG_684:g.21555G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.844G>C MANE Select ENSP00000286298.4:p.Gly282Arg
ENST00000286298.4:c.844G>C ENSP00000286298.4:p.Gly282Arg
ENST00000503336.1:c.372+2086G>C ENSP00000426053.1:n.372+2086G>C
NM_000112.3:c.844G>C , LRG_684t1:c.844G>C NP_000103.2:p.Gly282Arg
XM_017009191.2:c.844G>C XP_016864680.1:p.Gly282Arg
NM_000112.4:c.844G>C MANE Select NP_000103.2:p.Gly282Arg
Search 100 bp 5'
Search 100 bp 3'