Canonical Allele Identifier: CA16040996
Gene: SLC26A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371745
dbSNP Id: rs1057517502

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980931del , CM000667.2:g.149980931del GRCh38
NC_000005.9:g.149360494del , CM000667.1:g.149360494del GRCh37
NC_000005.8:g.149340687del NCBI36
NG_007147.2:g.22049del , LRG_684:g.22049del

Transcript Alleles

HGVS Amino-acid change
NM_000112.3:c.1338del , LRG_684t1:c.1338del NP_000103.2:p.Glu447AsnfsTer13
XM_017009191.2:c.1338del XP_016864680.1:p.Glu447AsnfsTer13
ENST00000286298.4:c.1338del ENSP00000286298.4:p.Glu447AsnfsTer13
ENST00000503336.1:n.372+2580del ENSP00000426053.1:p.=