Canonical Allele Identifier: CA3505227

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 906062
• ClinVar RCV Id: RCV001154976 ; RCV001154978 ; RCV001154975 ; RCV001154977 ; RCV001156641
• dbSNP Id: rs771569066
• ExAC: 5:149357495 C / T
• gnomAD v2: 5-149357495-C-T
• gnomAD v3: 5-149977932-C-T
• gnomAD v4: 5-149977932-C-T
• MyVariant Identifiers: chr5:g.149357495C>T (hg19) ; chr5:g.149977932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149977932C>T , CM000667.2:g.149977932C>T	GRCh38
NC_000005.9:g.149357495C>T , CM000667.1:g.149357495C>T	GRCh37
NC_000005.8:g.149337688C>T	NCBI36
NG_007147.2:g.19050C>T , LRG_684:g.19050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.512C>T
ENST00000286298.5:c.280C>T MANE Select	ENSP00000286298.4:p.Pro94Ser
ENST00000286298.4:c.280C>T	ENSP00000286298.4:p.Pro94Ser
NM_000112.3:c.280C>T , LRG_684t1:c.280C>T	NP_000103.2:p.Pro94Ser
XM_017009191.2:c.280C>T	XP_016864680.1:p.Pro94Ser
NM_000112.4:c.280C>T MANE Select	NP_000103.2:p.Pro94Ser