Canonical Allele Identifier: CA3505345
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs764775001

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?