Canonical Allele Identifier: CA1590739003
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1581232886
gnomAD v4: 5-149981916-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981916A>C , CM000667.2:g.149981916A>C GRCh38
NC_000005.9:g.149361479A>C , CM000667.1:g.149361479A>C GRCh37
NC_000005.8:g.149341672A>C NCBI36
NG_007147.2:g.23034A>C , LRG_684:g.23034A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*103A>C MANE Select ENSP00000286298.4:n.*103A>C
ENST00000286298.4:c.*103A>C ENSP00000286298.4:n.*103A>C
ENST00000503336.1:c.372+3565A>C ENSP00000426053.1:n.372+3565A>C
NM_000112.3:c.*103A>C , LRG_684t1:c.*103A>C NP_000103.2:n.*103A>C
XM_017009191.2:c.*13-13A>C XP_016864680.1:n.*13-13A>C
NM_000112.4:c.*103A>C MANE Select NP_000103.2:n.*103A>C
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