Canonical Allele Identifier: CA3505345

Gene: SLC26A2

Linked Data

• dbSNP Id: rs764775001
• ExAC: 5:149360027 A / AAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT
• MyVariant Identifiers: chr5:g.149360027_149360028insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT (hg19) ; chr5:g.149980464_149980465insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980464_149980465insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT , CM000667.2:g.149980464_149980465insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT	GRCh38
NC_000005.9:g.149360027_149360028insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT , CM000667.1:g.149360027_149360028insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT	GRCh37
NC_000005.8:g.149340220_149340221insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT	NCBI36
NG_007147.2:g.21582_21583insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT , LRG_684:g.21582_21583insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000286298.5:c.871_872insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT MANE Select	ENSP00000286298.4:p.Ile291LysfsTer?
ENST00000286298.4:c.871_872insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT	ENSP00000286298.4:p.Ile291LysfsTer?
ENST00000503336.1:c.372+2113_372+2114insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT	ENSP00000426053.1:n.372+2113_372+2114insAGGAAGGATATAGAAGTGTTA...
NM_000112.3:c.871_872insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT , LRG_684t1:c.871_872insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT	NP_000103.2:p.Ile291LysfsTer?
XM_017009191.2:c.871_872insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT	XP_016864680.1:p.Ile291LysfsTer?
NM_000112.4:c.871_872insAGGAAGGATATAGAAGTGTTAAATATAAATGGAAAAGAACTTCTAAATTT MANE Select	NP_000103.2:p.Ile291LysfsTer?