Canonical Allele Identifier: CA2675943672
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149981835-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981835T>A , CM000667.2:g.149981835T>A GRCh38
NC_000005.9:g.149361398T>A , CM000667.1:g.149361398T>A GRCh37
NC_000005.8:g.149341591T>A NCBI36
NG_007147.2:g.22953T>A , LRG_684:g.22953T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*22T>A MANE Select ENSP00000286298.4:n.*22T>A
ENST00000286298.4:c.*22T>A ENSP00000286298.4:n.*22T>A
ENST00000503336.1:c.372+3484T>A ENSP00000426053.1:n.372+3484T>A
NM_000112.3:c.*22T>A , LRG_684t1:c.*22T>A NP_000103.2:n.*22T>A
XM_017009191.2:c.*12+10T>A XP_016864680.1:n.*12+10T>A
NM_000112.4:c.*22T>A MANE Select NP_000103.2:n.*22T>A
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