Canonical Allele Identifier: CA1082857729
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1755035276
gnomAD v3: 5-149978373-G-C
gnomAD v4: 5-149978373-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978373G>C , CM000667.2:g.149978373G>C GRCh38
NC_000005.9:g.149357936G>C , CM000667.1:g.149357936G>C GRCh37
NC_000005.8:g.149338129G>C NCBI36
NG_007147.2:g.19491G>C , LRG_684:g.19491G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.953G>C
ENST00000286298.5:c.699+22G>C MANE Select ENSP00000286298.4:n.699+22G>C
ENST00000286298.4:c.699+22G>C ENSP00000286298.4:n.699+22G>C
ENST00000503336.1:c.372+22G>C ENSP00000426053.1:n.372+22G>C
NM_000112.3:c.699+22G>C , LRG_684t1:c.699+22G>C NP_000103.2:n.699+22G>C
XM_017009191.2:c.699+22G>C XP_016864680.1:n.699+22G>C
NM_000112.4:c.699+22G>C MANE Select NP_000103.2:n.699+22G>C
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