Canonical Allele Identifier: CA2578449469
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981777_149981778del , CM000667.2:g.149981777_149981778del GRCh38
NC_000005.9:g.149361340_149361341del , CM000667.1:g.149361340_149361341del GRCh37
NC_000005.8:g.149341533_149341534del NCBI36
NG_007147.2:g.22895_22896del , LRG_684:g.22895_22896del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2184_2185del MANE Select ENSP00000286298.4:p.Val730SerfsTer7
ENST00000286298.4:c.2184_2185del ENSP00000286298.4:p.Val730SerfsTer7
ENST00000503336.1:c.372+3426_372+3427del ENSP00000426053.1:n.372+3426_372+3427del
NM_000112.3:c.2184_2185del , LRG_684t1:c.2184_2185del NP_000103.2:p.Val730SerfsTer7
XM_017009191.2:c.2184_2185del XP_016864680.1:p.Val730SerfsTer7
NM_000112.4:c.2184_2185del MANE Select NP_000103.2:p.Val730SerfsTer7
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