Canonical Allele Identifier: CA263255

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 56016
• ClinVar RCV Id: RCV000049425 ; RCV000169577 ; RCV000305551 ; RCV000641291 ; RCV001577836 ; RCV001826705 ; RCV002509193
• dbSNP Id: rs386833497
• ExAC: 5:149360805 AG / A
• gnomAD v2: 5-149360805-AG-A
• gnomAD v3: 5-149981242-AG-A
• gnomAD v4: 5-149981242-AG-A
• MyVariant Identifiers: chr5:g.149360806del (hg19) ; chr5:g.149981243del (hg38)
• PubMed: PMID:11241838

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981243del , CM000667.2:g.149981243del	GRCh38
NC_000005.9:g.149360806del , CM000667.1:g.149360806del	GRCh37
NC_000005.8:g.149340999del	NCBI36
NG_007147.2:g.22361del , LRG_684:g.22361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1650del MANE Select	ENSP00000286298.4:p.Ser551ValfsTer?
ENST00000286298.4:c.1650del	ENSP00000286298.4:p.Ser551ValfsTer?
ENST00000503336.1:c.372+2892del	ENSP00000426053.1:n.372+2892del
NM_000112.3:c.1650del , LRG_684t1:c.1650del	NP_000103.2:p.Ser551ValfsTer?
XM_017009191.2:c.1650del	XP_016864680.1:p.Ser551ValfsTer?
NM_000112.4:c.1650del MANE Select	NP_000103.2:p.Ser551ValfsTer?