Canonical Allele Identifier: CA3505287
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2054517
ClinVar RCV Id: RCV002909801 RCV003250621
dbSNP Id: rs377095681
ExAC: 5:149357865 A / G
gnomAD v2: 5-149357865-A-G
gnomAD v3: 5-149978302-A-G
gnomAD v4: 5-149978302-A-G
MyVariant Identifiers: chr5:g.149357865A>G (hg19) chr5:g.149978302A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978302A>G , CM000667.2:g.149978302A>G GRCh38
NC_000005.9:g.149357865A>G , CM000667.1:g.149357865A>G GRCh37
NC_000005.8:g.149338058A>G NCBI36
NG_007147.2:g.19420A>G , LRG_684:g.19420A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.882A>G
ENST00000286298.5:c.650A>G MANE Select ENSP00000286298.4:p.Tyr217Cys
ENST00000286298.4:c.650A>G ENSP00000286298.4:p.Tyr217Cys
ENST00000503336.1:c.323A>G ENSP00000426053.1:p.Tyr108Cys
NM_000112.3:c.650A>G , LRG_684t1:c.650A>G NP_000103.2:p.Tyr217Cys
XM_017009191.2:c.650A>G XP_016864680.1:p.Tyr217Cys
NM_000112.4:c.650A>G MANE Select NP_000103.2:p.Tyr217Cys
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