Canonical Allele Identifier: CA16040987
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371749
dbSNP Id: rs1057517504

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977891_149977895dup , CM000667.2:g.149977891_149977895dup GRCh38
NC_000005.9:g.149357454_149357458dup , CM000667.1:g.149357454_149357458dup GRCh37
NC_000005.8:g.149337647_149337651dup NCBI36
NG_007147.2:g.19009_19013dup , LRG_684:g.19009_19013dup

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.471_475dup
ENST00000286298.5:c.239_243dup MANE Select ENSP00000286298.4:p.Pro82AlafsTer9
ENST00000286298.4:c.239_243dup ENSP00000286298.4:p.Pro82AlafsTer9
NM_000112.3:c.239_243dup , LRG_684t1:c.239_243dup NP_000103.2:p.Pro82AlafsTer9
XM_017009191.2:c.239_243dup XP_016864680.1:p.Pro82AlafsTer9
NM_000112.4:c.239_243dup MANE Select NP_000103.2:p.Pro82AlafsTer9