Canonical Allele Identifier: CA3505230

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 2678884
• ClinVar RCV Id: RCV003472860 ; RCV003779114
• dbSNP Id: rs772015926
• ExAC: 5:149357509 G / A
• gnomAD v2: 5-149357509-G-A
• gnomAD v3: 5-149977946-G-A
• gnomAD v4: 5-149977946-G-A
• MyVariant Identifiers: chr5:g.149357509G>A (hg19) ; chr5:g.149977946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149977946G>A , CM000667.2:g.149977946G>A	GRCh38
NC_000005.9:g.149357509G>A , CM000667.1:g.149357509G>A	GRCh37
NC_000005.8:g.149337702G>A	NCBI36
NG_007147.2:g.19064G>A , LRG_684:g.19064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.526G>A
ENST00000286298.5:c.294G>A MANE Select	ENSP00000286298.4:p.Trp98Ter
ENST00000286298.4:c.294G>A	ENSP00000286298.4:p.Trp98Ter
NM_000112.3:c.294G>A , LRG_684t1:c.294G>A	NP_000103.2:p.Trp98Ter
XM_017009191.2:c.294G>A	XP_016864680.1:p.Trp98Ter
NM_000112.4:c.294G>A MANE Select	NP_000103.2:p.Trp98Ter