Canonical Allele Identifier: CA3505291
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs774842972
ExAC: 5:149357906 GT / G
gnomAD v2: 5-149357906-GT-G
MyVariant Identifiers: chr5:g.149357907del (hg19) chr5:g.149978345del (hg38) chr5:g.149978344del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978346del , CM000667.2:g.149978346del GRCh38
NC_000005.9:g.149357909del , CM000667.1:g.149357909del GRCh37
NC_000005.8:g.149338102del NCBI36
NG_007147.2:g.19464del , LRG_684:g.19464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.926del
ENST00000286298.5:c.694del MANE Select ENSP00000286298.4:p.Tyr232IlefsTer3
ENST00000286298.4:c.694del ENSP00000286298.4:p.Tyr232IlefsTer3
ENST00000503336.1:c.367del ENSP00000426053.1:p.Tyr123IlefsTer?
NM_000112.3:c.694del , LRG_684t1:c.694del NP_000103.2:p.Tyr232IlefsTer3
XM_017009191.2:c.694del XP_016864680.1:p.Tyr232IlefsTer3
NM_000112.4:c.694del MANE Select NP_000103.2:p.Tyr232IlefsTer3
Search 100 bp 5'
Search 100 bp 3'