Canonical Allele Identifier: CA2578449481
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981883del , CM000667.2:g.149981883del GRCh38
NC_000005.9:g.149361446del , CM000667.1:g.149361446del GRCh37
NC_000005.8:g.149341639del NCBI36
NG_007147.2:g.23001del , LRG_684:g.23001del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*70del MANE Select ENSP00000286298.4:n.*70del
ENST00000286298.4:c.*70del ENSP00000286298.4:n.*70del
ENST00000503336.1:c.372+3532del ENSP00000426053.1:n.372+3532del
NM_000112.3:c.*70del , LRG_684t1:c.*70del NP_000103.2:n.*70del
XM_017009191.2:c.*13-46del XP_016864680.1:n.*13-46del
NM_000112.4:c.*70del MANE Select NP_000103.2:n.*70del
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