Canonical Allele Identifier: CA1590738783
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981449_149981450delinsGA , CM000667.2:g.149981449_149981450delinsGA GRCh38
NC_000005.9:g.149361012_149361013delinsGA , CM000667.1:g.149361012_149361013delinsGA GRCh37
NC_000005.8:g.149341205_149341206delinsGA NCBI36
NG_007147.2:g.22567_22568delinsGA , LRG_684:g.22567_22568delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1856_1857delinsGA MANE Select ENSP00000286298.4:p.Arg619=
ENST00000286298.4:c.1856_1857delinsGA ENSP00000286298.4:p.Arg619=
ENST00000503336.1:c.372+3098_372+3099delinsGA ENSP00000426053.1:n.372+3098_372+3099delinsGA
NM_000112.3:c.1856_1857delinsGA , LRG_684t1:c.1856_1857delinsGA NP_000103.2:p.Arg619=
XM_017009191.2:c.1856_1857delinsGA XP_016864680.1:p.Arg619=
NM_000112.4:c.1856_1857delinsGA MANE Select NP_000103.2:p.Arg619=
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