Canonical Allele Identifier: CA2675943477
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149978361-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978361A>C , CM000667.2:g.149978361A>C GRCh38
NC_000005.9:g.149357924A>C , CM000667.1:g.149357924A>C GRCh37
NC_000005.8:g.149338117A>C NCBI36
NG_007147.2:g.19479A>C , LRG_684:g.19479A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.941A>C
ENST00000286298.5:c.699+10A>C MANE Select ENSP00000286298.4:n.699+10A>C
ENST00000286298.4:c.699+10A>C ENSP00000286298.4:n.699+10A>C
ENST00000503336.1:c.372+10A>C ENSP00000426053.1:n.372+10A>C
NM_000112.3:c.699+10A>C , LRG_684t1:c.699+10A>C NP_000103.2:n.699+10A>C
XM_017009191.2:c.699+10A>C XP_016864680.1:n.699+10A>C
NM_000112.4:c.699+10A>C MANE Select NP_000103.2:n.699+10A>C
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