Canonical Allele Identifier: CA2578449485
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149981893-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981893A>G , CM000667.2:g.149981893A>G GRCh38
NC_000005.9:g.149361456A>G , CM000667.1:g.149361456A>G GRCh37
NC_000005.8:g.149341649A>G NCBI36
NG_007147.2:g.23011A>G , LRG_684:g.23011A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*80A>G MANE Select ENSP00000286298.4:n.*80A>G
ENST00000286298.4:c.*80A>G ENSP00000286298.4:n.*80A>G
ENST00000503336.1:c.372+3542A>G ENSP00000426053.1:n.372+3542A>G
NM_000112.3:c.*80A>G , LRG_684t1:c.*80A>G NP_000103.2:n.*80A>G
XM_017009191.2:c.*13-36A>G XP_016864680.1:n.*13-36A>G
NM_000112.4:c.*80A>G MANE Select NP_000103.2:n.*80A>G
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