Canonical Allele Identifier: CA10623612

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 352034
• ClinVar RCV Id: RCV000284300 ; RCV000316326 ; RCV000320599 ; RCV000384454 ; RCV000378809
• dbSNP Id: rs115383424
• gnomAD v2: 5-149361581-G-A
• gnomAD v3: 5-149982018-G-A
• gnomAD v4: 5-149982018-G-A
• MyVariant Identifiers: chr5:g.149361581G>A (hg19) ; chr5:g.149982018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149982018G>A , CM000667.2:g.149982018G>A	GRCh38
NC_000005.9:g.149361581G>A , CM000667.1:g.149361581G>A	GRCh37
NC_000005.8:g.149341774G>A	NCBI36
NG_007147.2:g.23136G>A , LRG_684:g.23136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.*205G>A MANE Select	ENSP00000286298.4:n.*205G>A
ENST00000286298.4:c.*205G>A	ENSP00000286298.4:n.*205G>A
ENST00000503336.1:c.372+3667G>A	ENSP00000426053.1:n.372+3667G>A
NM_000112.3:c.*205G>A , LRG_684t1:c.*205G>A	NP_000103.2:n.*205G>A
XM_017009191.2:c.*102G>A	XP_016864680.1:n.*102G>A
NM_000112.4:c.*205G>A MANE Select	NP_000103.2:n.*205G>A