Canonical Allele Identifier: CA805532931
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1431423838
gnomAD v3: 5-149981932-T-A
gnomAD v4: 5-149981932-T-A
MyVariant Identifiers: chr5:g.149361495T>A (hg19) chr5:g.149981932T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981932T>A , CM000667.2:g.149981932T>A GRCh38
NC_000005.9:g.149361495T>A , CM000667.1:g.149361495T>A GRCh37
NC_000005.8:g.149341688T>A NCBI36
NG_007147.2:g.23050T>A , LRG_684:g.23050T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*119T>A MANE Select ENSP00000286298.4:n.*119T>A
ENST00000286298.4:c.*119T>A ENSP00000286298.4:n.*119T>A
ENST00000503336.1:c.372+3581T>A ENSP00000426053.1:n.372+3581T>A
NM_000112.3:c.*119T>A , LRG_684t1:c.*119T>A NP_000103.2:n.*119T>A
XM_017009191.2:c.*16T>A XP_016864680.1:n.*16T>A
NM_000112.4:c.*119T>A MANE Select NP_000103.2:n.*119T>A
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