Canonical Allele Identifier: CA16041000
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371708
dbSNP Id: rs1057517474

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981548_149981551del , CM000667.2:g.149981548_149981551del GRCh38
NC_000005.9:g.149361111_149361114del , CM000667.1:g.149361111_149361114del GRCh37
NC_000005.8:g.149341304_149341307del NCBI36
NG_007147.2:g.22666_22669del , LRG_684:g.22666_22669del

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1955_1958del MANE Select ENSP00000286298.4:p.Asp652AlafsTer7
ENST00000286298.4:c.1955_1958del ENSP00000286298.4:p.Asp652AlafsTer7
ENST00000503336.1:c.372+3197_372+3200del ENSP00000426053.1:n.372+3197_372+3200del
NM_000112.3:c.1955_1958del , LRG_684t1:c.1955_1958del NP_000103.2:p.Asp652AlafsTer7
XM_017009191.2:c.1955_1958del XP_016864680.1:p.Asp652AlafsTer7
NM_000112.4:c.1955_1958del MANE Select NP_000103.2:p.Asp652AlafsTer7