Canonical Allele Identifier: CA1590739006
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1755114509
gnomAD v4: 5-149981924-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981924G>C , CM000667.2:g.149981924G>C GRCh38
NC_000005.9:g.149361487G>C , CM000667.1:g.149361487G>C GRCh37
NC_000005.8:g.149341680G>C NCBI36
NG_007147.2:g.23042G>C , LRG_684:g.23042G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*111G>C MANE Select ENSP00000286298.4:n.*111G>C
ENST00000286298.4:c.*111G>C ENSP00000286298.4:n.*111G>C
ENST00000503336.1:c.372+3573G>C ENSP00000426053.1:n.372+3573G>C
NM_000112.3:c.*111G>C , LRG_684t1:c.*111G>C NP_000103.2:n.*111G>C
XM_017009191.2:c.*13-5G>C XP_016864680.1:n.*13-5G>C
NM_000112.4:c.*111G>C MANE Select NP_000103.2:n.*111G>C
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