Canonical Allele Identifier: CA259846

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 65558
• ClinVar RCV Id: RCV001810418
• dbSNP Id: rs121908077
• ExAC: 5:149360165 CTTG / C
• gnomAD v2: 5-149360165-CTTG-C
• gnomAD v3: 5-149980602-CTTG-C
• gnomAD v4: 5-149980602-CTTG-C
• MyVariant Identifiers: chr5:g.149360176_149360178del (hg19) ; chr5:g.149360169_149360171del (hg19) ; chr5:g.149360166_149360168del (hg19) ; chr5:g.149980613_149980615del (hg38) ; chr5:g.149980606_149980608del (hg38) ; chr5:g.149980604_149980606del (hg38) ; chr5:g.149980603_149980605del (hg38)
• PubMed: PMID:8528239 ; PMID:9637425 ; PMID:10482955 ; PMID:11448940 ; PMID:15294877 ; PMID:20301524

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980613_149980615del , CM000667.2:g.149980613_149980615del	GRCh38
NC_000005.9:g.149360176_149360178del , CM000667.1:g.149360176_149360178del	GRCh37
NC_000005.8:g.149340369_149340371del	NCBI36
NG_007147.2:g.21731_21733del , LRG_684:g.21731_21733del

Transcript Alleles

HGVS	Amino-acid change
ENST00000286298.5:c.1020_1022del MANE Select	ENSP00000286298.4:p.Val341del
ENST00000286298.4:c.1020_1022del	ENSP00000286298.4:p.Val341del
ENST00000503336.1:c.372+2262_372+2264del	ENSP00000426053.1:n.372+2262_372+2264del
NM_000112.3:c.1020_1022del , LRG_684t1:c.1020_1022del	NP_000103.2:p.Val341del
XM_017009191.2:c.1020_1022del	XP_016864680.1:p.Val341del
NM_000112.4:c.1020_1022del MANE Select	NP_000103.2:p.Val341del