Canonical Allele Identifier: CA3505571
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 551693
ClinVar RCV Id: RCV000666821
dbSNP Id: rs747357127
ExAC: 5:149361374 T / A
gnomAD v2: 5-149361374-T-A
gnomAD v3: 5-149981811-T-A
gnomAD v4: 5-149981811-T-A
MyVariant Identifiers: chr5:g.149361374T>A (hg19) chr5:g.149981811T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981811T>A , CM000667.2:g.149981811T>A GRCh38
NC_000005.9:g.149361374T>A , CM000667.1:g.149361374T>A GRCh37
NC_000005.8:g.149341567T>A NCBI36
NG_007147.2:g.22929T>A , LRG_684:g.22929T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.2218T>A MANE Select ENSP00000286298.4:p.Ter740Lys
ENST00000286298.4:c.2218T>A ENSP00000286298.4:p.Ter740Lys
ENST00000503336.1:c.372+3460T>A ENSP00000426053.1:n.372+3460T>A
NM_000112.3:c.2218T>A , LRG_684t1:c.2218T>A NP_000103.2:p.Ter740Lys
XM_017009191.2:c.2218T>A XP_016864680.1:p.Ter740Lys
NM_000112.4:c.2218T>A MANE Select NP_000103.2:p.Ter740Lys
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