Canonical Allele Identifier: CA3505570

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 2049357
• ClinVar RCV Id: RCV002937052
• dbSNP Id: rs761224496
• ExAC: 5:149361369 GTGATTAAT / G
• gnomAD v2: 5-149361369-GTGATTAAT-G
• gnomAD v3: 5-149981806-GTGATTAAT-G
• gnomAD v4: 5-149981806-GTGATTAAT-G
• MyVariant Identifiers: chr5:g.149361370_149361377del (hg19) ; chr5:g.149981807_149981814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981810_149981817del , CM000667.2:g.149981810_149981817del	GRCh38
NC_000005.9:g.149361373_149361380del , CM000667.1:g.149361373_149361380del	GRCh37
NC_000005.8:g.149341566_149341573del	NCBI36
NG_007147.2:g.22928_22935del , LRG_684:g.22928_22935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.2217_*4del MANE Select	ENSP00000286298.4:n.[c.2217_*4del;Asp739GlufsTer11]
ENST00000286298.4:c.2217_*4del	ENSP00000286298.4:n.[c.2217_*4del;Asp739GlufsTer11]
ENST00000503336.1:c.372+3459_372+3466del	ENSP00000426053.1:n.372+3459_372+3466del
NM_000112.3:c.2217_*4del , LRG_684t1:c.2217_*4del	NP_000103.2:n.[c.2217_*4del;Asp739GlufsTer11]
XM_017009191.2:c.2217_*4del	XP_016864680.1:n.[c.2217_*4del;Asp739GlufsTer?]
NM_000112.4:c.2217_*4del MANE Select	NP_000103.2:n.[c.2217_*4del;Asp739GlufsTer11]