Canonical Allele Identifier: CA361704966
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2945621
ClinVar RCV Id: RCV003803715
MyVariant Identifiers: chr5:g.149357641C>A (hg19) chr5:g.149978078C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978078C>A , CM000667.2:g.149978078C>A GRCh38
NC_000005.9:g.149357641C>A , CM000667.1:g.149357641C>A GRCh37
NC_000005.8:g.149337834C>A NCBI36
NG_007147.2:g.19196C>A , LRG_684:g.19196C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.658C>A
ENST00000286298.5:c.426C>A MANE Select ENSP00000286298.4:p.Tyr142Ter
ENST00000286298.4:c.426C>A ENSP00000286298.4:p.Tyr142Ter
ENST00000503336.1:c.99C>A ENSP00000426053.1:p.Tyr33Ter
NM_000112.3:c.426C>A , LRG_684t1:c.426C>A NP_000103.2:p.Tyr142Ter
XM_017009191.2:c.426C>A XP_016864680.1:p.Tyr142Ter
NM_000112.4:c.426C>A MANE Select NP_000103.2:p.Tyr142Ter
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