Canonical Allele Identifier: CA805532912
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1228256111
gnomAD v4: 5-149981872-T-C
MyVariant Identifiers: chr5:g.149361435T>C (hg19) chr5:g.149981872T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981872T>C , CM000667.2:g.149981872T>C GRCh38
NC_000005.9:g.149361435T>C , CM000667.1:g.149361435T>C GRCh37
NC_000005.8:g.149341628T>C NCBI36
NG_007147.2:g.22990T>C , LRG_684:g.22990T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*59T>C MANE Select ENSP00000286298.4:n.*59T>C
ENST00000286298.4:c.*59T>C ENSP00000286298.4:n.*59T>C
ENST00000503336.1:c.372+3521T>C ENSP00000426053.1:n.372+3521T>C
NM_000112.3:c.*59T>C , LRG_684t1:c.*59T>C NP_000103.2:n.*59T>C
XM_017009191.2:c.*12+47T>C XP_016864680.1:n.*12+47T>C
NM_000112.4:c.*59T>C MANE Select NP_000103.2:n.*59T>C
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