Canonical Allele Identifier: CA10619696

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 352094
• ClinVar RCV Id: RCV000288906 ; RCV000311342 ; RCV000346456 ; RCV000368386 ; RCV000395422 ; RCV001786379
• dbSNP Id: rs79521091
• gnomAD v2: 5-149366306-C-T
• gnomAD v3: 5-149986743-C-T
• gnomAD v4: 5-149986743-C-T
• MyVariant Identifiers: chr5:g.149366306C>T (hg19) ; chr5:g.149986743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149986743C>T , CM000667.2:g.149986743C>T	GRCh38
NC_000005.9:g.149366306C>T , CM000667.1:g.149366306C>T	GRCh37
NC_000005.8:g.149346499C>T	NCBI36
NG_007147.2:g.27861C>T , LRG_684:g.27861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.*4930C>T MANE Select	ENSP00000286298.4:n.*4930C>T
ENST00000286298.4:c.*4930C>T	ENSP00000286298.4:n.*4930C>T
ENST00000503336.1:c.373-6467C>T	ENSP00000426053.1:n.373-6467C>T
NM_000112.3:c.*4930C>T , LRG_684t1:c.*4930C>T	NP_000103.2:n.*4930C>T
XM_017009191.2:c.*4827C>T	XP_016864680.1:n.*4827C>T
NM_000112.4:c.*4930C>T MANE Select	NP_000103.2:n.*4930C>T