Canonical Allele Identifier: CA2552664935
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981440_149981441insTTGTA , CM000667.2:g.149981440_149981441insTTGTA GRCh38
NC_000005.9:g.149361003_149361004insTTGTA , CM000667.1:g.149361003_149361004insTTGTA GRCh37
NC_000005.8:g.149341196_149341197insTTGTA NCBI36
NG_007147.2:g.22558_22559insTTGTA , LRG_684:g.22558_22559insTTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1847_1848insTTGTA MANE Select ENSP00000286298.4:p.Ala617CysfsTer11
ENST00000286298.4:c.1847_1848insTTGTA ENSP00000286298.4:p.Ala617CysfsTer11
ENST00000503336.1:c.372+3089_372+3090insTTGTA ENSP00000426053.1:n.372+3089_372+3090insTTGTA
NM_000112.3:c.1847_1848insTTGTA , LRG_684t1:c.1847_1848insTTGTA NP_000103.2:p.Ala617CysfsTer11
XM_017009191.2:c.1847_1848insTTGTA XP_016864680.1:p.Ala617CysfsTer11
NM_000112.4:c.1847_1848insTTGTA MANE Select NP_000103.2:p.Ala617CysfsTer11
Search 100 bp 5'
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