Canonical Allele Identifier: CA16040998
Gene: SLC26A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371717
dbSNP Id: rs1057517482

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981242del , CM000667.2:g.149981242del GRCh38
NC_000005.9:g.149360805del , CM000667.1:g.149360805del GRCh37
NC_000005.8:g.149340998del NCBI36
NG_007147.2:g.22360del , LRG_684:g.22360del

Transcript Alleles

HGVS Amino-acid change
NM_000112.3:c.1649del , LRG_684t1:c.1649del NP_000103.2:p.Lys550ArgfsTer?
XM_017009191.2:c.1649del XP_016864680.1:p.Lys550ArgfsTer?
ENST00000286298.4:c.1649del ENSP00000286298.4:p.Lys550ArgfsTer?
ENST00000503336.1:n.372+2891del ENSP00000426053.1:p.=