Canonical Allele Identifier: CA2531784885
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981570_149981571insAT , CM000667.2:g.149981570_149981571insAT GRCh38
NC_000005.9:g.149361133_149361134insAT , CM000667.1:g.149361133_149361134insAT GRCh37
NC_000005.8:g.149341326_149341327insAT NCBI36
NG_007147.2:g.22688_22689insAT , LRG_684:g.22688_22689insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1977_1978insAT MANE Select ENSP00000286298.4:p.Asp660MetfsTer9
ENST00000286298.4:c.1977_1978insAT ENSP00000286298.4:p.Asp660MetfsTer9
ENST00000503336.1:c.372+3219_372+3220insAT ENSP00000426053.1:n.372+3219_372+3220insAT
NM_000112.3:c.1977_1978insAT , LRG_684t1:c.1977_1978insAT NP_000103.2:p.Asp660MetfsTer9
XM_017009191.2:c.1977_1978insAT XP_016864680.1:p.Asp660MetfsTer9
NM_000112.4:c.1977_1978insAT MANE Select NP_000103.2:p.Asp660MetfsTer9
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