Canonical Allele Identifier: CA361705133
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1320154597
gnomAD v3: 5-149978159-C-A
gnomAD v4: 5-149978159-C-A
MyVariant Identifiers: chr5:g.149357722C>A (hg19) chr5:g.149978159C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978159C>A , CM000667.2:g.149978159C>A GRCh38
NC_000005.9:g.149357722C>A , CM000667.1:g.149357722C>A GRCh37
NC_000005.8:g.149337915C>A NCBI36
NG_007147.2:g.19277C>A , LRG_684:g.19277C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.739C>A
ENST00000286298.5:c.507C>A MANE Select ENSP00000286298.4:p.Cys169Ter
ENST00000286298.4:c.507C>A ENSP00000286298.4:p.Cys169Ter
ENST00000503336.1:c.180C>A ENSP00000426053.1:p.Cys60Ter
NM_000112.3:c.507C>A , LRG_684t1:c.507C>A NP_000103.2:p.Cys169Ter
XM_017009191.2:c.507C>A XP_016864680.1:p.Cys169Ter
NM_000112.4:c.507C>A MANE Select NP_000103.2:p.Cys169Ter
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