Canonical Allele Identifier: CA2578449483
Gene: SLC26A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981888T>A , CM000667.2:g.149981888T>A GRCh38
NC_000005.9:g.149361451T>A , CM000667.1:g.149361451T>A GRCh37
NC_000005.8:g.149341644T>A NCBI36
NG_007147.2:g.23006T>A , LRG_684:g.23006T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*75T>A MANE Select ENSP00000286298.4:n.*75T>A
ENST00000286298.4:c.*75T>A ENSP00000286298.4:n.*75T>A
ENST00000503336.1:c.372+3537T>A ENSP00000426053.1:n.372+3537T>A
NM_000112.3:c.*75T>A , LRG_684t1:c.*75T>A NP_000103.2:n.*75T>A
XM_017009191.2:c.*13-41T>A XP_016864680.1:n.*13-41T>A
NM_000112.4:c.*75T>A MANE Select NP_000103.2:n.*75T>A
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