Canonical Allele Identifier: CA16040993
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371735
dbSNP Id: rs1057517495

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980515del , CM000667.2:g.149980515del GRCh38
NC_000005.9:g.149360078del , CM000667.1:g.149360078del GRCh37
NC_000005.8:g.149340271del NCBI36
NG_007147.2:g.21633del , LRG_684:g.21633del

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.922del MANE Select ENSP00000286298.4:p.Ser308AlafsTer?
ENST00000286298.4:c.922del ENSP00000286298.4:p.Ser308AlafsTer?
ENST00000503336.1:c.372+2164del ENSP00000426053.1:n.372+2164del
NM_000112.3:c.922del , LRG_684t1:c.922del NP_000103.2:p.Ser308AlafsTer?
XM_017009191.2:c.922del XP_016864680.1:p.Ser308AlafsTer?
NM_000112.4:c.922del MANE Select NP_000103.2:p.Ser308AlafsTer?