Canonical Allele Identifier: CA16040997
Gene: SLC26A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371758
dbSNP Id: rs1057517511

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981130_149981134dup , CM000667.2:g.149981130_149981134dup GRCh38
NC_000005.9:g.149360693_149360697dup , CM000667.1:g.149360693_149360697dup GRCh37
NC_000005.8:g.149340886_149340890dup NCBI36
NG_007147.2:g.22248_22252dup , LRG_684:g.22248_22252dup

Transcript Alleles

HGVS Amino-acid change
NM_000112.3:c.1537_1541dup , LRG_684t1:c.1537_1541dup
XM_017009191.2:c.1537_1541dup
ENST00000286298.4:c.1537_1541dup
ENST00000503336.1:n.372+2779_372+2783dup ENSP00000426053.1:p.=