Canonical Allele Identifier: CA805532963
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1183102270
gnomAD v3: 5-149981986-G-A
gnomAD v4: 5-149981986-G-A
MyVariant Identifiers: chr5:g.149361549G>A (hg19) chr5:g.149981986G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981986G>A , CM000667.2:g.149981986G>A GRCh38
NC_000005.9:g.149361549G>A , CM000667.1:g.149361549G>A GRCh37
NC_000005.8:g.149341742G>A NCBI36
NG_007147.2:g.23104G>A , LRG_684:g.23104G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*173G>A MANE Select ENSP00000286298.4:n.*173G>A
ENST00000286298.4:c.*173G>A ENSP00000286298.4:n.*173G>A
ENST00000503336.1:c.372+3635G>A ENSP00000426053.1:n.372+3635G>A
NM_000112.3:c.*173G>A , LRG_684t1:c.*173G>A NP_000103.2:n.*173G>A
XM_017009191.2:c.*70G>A XP_016864680.1:n.*70G>A
NM_000112.4:c.*173G>A MANE Select NP_000103.2:n.*173G>A
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