Canonical Allele Identifier: CA252996

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 4098
• ClinVar RCV Id: RCV000004313 ; RCV000055760 ; RCV000224702 ; RCV000409936 ; RCV000411019 ; RCV000477884 ; RCV000780712 ; RCV001030750 ; RCV001813733 ; RCV002276531
• dbSNP Id: rs104893924
• ExAC: 5:149361113 T / A
• gnomAD v2: 5-149361113-T-A
• gnomAD v3: 5-149981550-T-A
• gnomAD v4: 5-149981550-T-A
• MyVariant Identifiers: chr5:g.149361113T>A (hg19) ; chr5:g.149981550T>A (hg38)
• PubMed: PMID:11241838 ; PMID:11448940 ; PMID:12525546 ; PMID:12966518 ; PMID:15294877 ; PMID:20301524 ; PMID:20525296 ; PMID:21077204 ; PMID:21922596

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981550T>A , CM000667.2:g.149981550T>A	GRCh38
NC_000005.9:g.149361113T>A , CM000667.1:g.149361113T>A	GRCh37
NC_000005.8:g.149341306T>A	NCBI36
NG_007147.2:g.22668T>A , LRG_684:g.22668T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.1957T>A MANE Select	ENSP00000286298.4:p.Cys653Ser
ENST00000286298.4:c.1957T>A	ENSP00000286298.4:p.Cys653Ser
ENST00000503336.1:c.372+3199T>A	ENSP00000426053.1:n.372+3199T>A
NM_000112.3:c.1957T>A , LRG_684t1:c.1957T>A	NP_000103.2:p.Cys653Ser
XM_017009191.2:c.1957T>A	XP_016864680.1:p.Cys653Ser
NM_000112.4:c.1957T>A MANE Select	NP_000103.2:p.Cys653Ser