Canonical Allele Identifier: CA2675943744
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149981971-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981971A>C , CM000667.2:g.149981971A>C GRCh38
NC_000005.9:g.149361534A>C , CM000667.1:g.149361534A>C GRCh37
NC_000005.8:g.149341727A>C NCBI36
NG_007147.2:g.23089A>C , LRG_684:g.23089A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*158A>C MANE Select ENSP00000286298.4:n.*158A>C
ENST00000286298.4:c.*158A>C ENSP00000286298.4:n.*158A>C
ENST00000503336.1:c.372+3620A>C ENSP00000426053.1:n.372+3620A>C
NM_000112.3:c.*158A>C , LRG_684t1:c.*158A>C NP_000103.2:n.*158A>C
XM_017009191.2:c.*55A>C XP_016864680.1:n.*55A>C
NM_000112.4:c.*158A>C MANE Select NP_000103.2:n.*158A>C
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