Canonical Allele Identifier: CA2675943652
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149981245-GT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981247del , CM000667.2:g.149981247del GRCh38
NC_000005.9:g.149360810del , CM000667.1:g.149360810del GRCh37
NC_000005.8:g.149341003del NCBI36
NG_007147.2:g.22365del , LRG_684:g.22365del

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1654del MANE Select ENSP00000286298.4:p.Ser552HisfsTer?
ENST00000286298.4:c.1654del ENSP00000286298.4:p.Ser552HisfsTer?
ENST00000503336.1:c.372+2896del ENSP00000426053.1:n.372+2896del
NM_000112.3:c.1654del , LRG_684t1:c.1654del NP_000103.2:p.Ser552HisfsTer?
XM_017009191.2:c.1654del XP_016864680.1:p.Ser552HisfsTer?
NM_000112.4:c.1654del MANE Select NP_000103.2:p.Ser552HisfsTer?
Search 100 bp 5'
Search 100 bp 3'