Canonical Allele Identifier: CA3505558

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 352031
• ClinVar RCV Id: RCV000281557 ; RCV000336484 ; RCV000330490 ; RCV000372485 ; RCV000376030 ; RCV001439481
• dbSNP Id: rs374692915
• ExAC: 5:149361285 A / G
• gnomAD v2: 5-149361285-A-G
• gnomAD v3: 5-149981722-A-G
• gnomAD v4: 5-149981722-A-G
• MyVariant Identifiers: chr5:g.149361285A>G (hg19) ; chr5:g.149981722A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981722A>G , CM000667.2:g.149981722A>G	GRCh38
NC_000005.9:g.149361285A>G , CM000667.1:g.149361285A>G	GRCh37
NC_000005.8:g.149341478A>G	NCBI36
NG_007147.2:g.22840A>G , LRG_684:g.22840A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.2129A>G MANE Select	ENSP00000286298.4:p.Tyr710Cys
ENST00000286298.4:c.2129A>G	ENSP00000286298.4:p.Tyr710Cys
ENST00000503336.1:c.372+3371A>G	ENSP00000426053.1:n.372+3371A>G
NM_000112.3:c.2129A>G , LRG_684t1:c.2129A>G	NP_000103.2:p.Tyr710Cys
XM_017009191.2:c.2129A>G	XP_016864680.1:p.Tyr710Cys
NM_000112.4:c.2129A>G MANE Select	NP_000103.2:p.Tyr710Cys