Canonical Allele Identifier: CA563955749
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1403525784
gnomAD v2: 5-149361405-C-A
gnomAD v4: 5-149981842-C-A
MyVariant Identifiers: chr5:g.149361405C>A (hg19) chr5:g.149981842C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981842C>A , CM000667.2:g.149981842C>A GRCh38
NC_000005.9:g.149361405C>A , CM000667.1:g.149361405C>A GRCh37
NC_000005.8:g.149341598C>A NCBI36
NG_007147.2:g.22960C>A , LRG_684:g.22960C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*29C>A MANE Select ENSP00000286298.4:n.*29C>A
ENST00000286298.4:c.*29C>A ENSP00000286298.4:n.*29C>A
ENST00000503336.1:c.372+3491C>A ENSP00000426053.1:n.372+3491C>A
NM_000112.3:c.*29C>A , LRG_684t1:c.*29C>A NP_000103.2:n.*29C>A
XM_017009191.2:c.*12+17C>A XP_016864680.1:n.*12+17C>A
NM_000112.4:c.*29C>A MANE Select NP_000103.2:n.*29C>A
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