Canonical Allele Identifier: CA563955682
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1010887805
gnomAD v2: 5-149357938-T-A
gnomAD v4: 5-149978375-T-A
MyVariant Identifiers: chr5:g.149357938T>A (hg19) chr5:g.149978375T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978375T>A , CM000667.2:g.149978375T>A GRCh38
NC_000005.9:g.149357938T>A , CM000667.1:g.149357938T>A GRCh37
NC_000005.8:g.149338131T>A NCBI36
NG_007147.2:g.19493T>A , LRG_684:g.19493T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.955T>A
ENST00000286298.5:c.699+24T>A MANE Select ENSP00000286298.4:n.699+24T>A
ENST00000286298.4:c.699+24T>A ENSP00000286298.4:n.699+24T>A
ENST00000503336.1:c.372+24T>A ENSP00000426053.1:n.372+24T>A
NM_000112.3:c.699+24T>A , LRG_684t1:c.699+24T>A NP_000103.2:n.699+24T>A
XM_017009191.2:c.699+24T>A XP_016864680.1:n.699+24T>A
NM_000112.4:c.699+24T>A MANE Select NP_000103.2:n.699+24T>A
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