Canonical Allele Identifier: CA3505279
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs763693887
ExAC: 5:149357787 C / T
gnomAD v2: 5-149357787-C-T
gnomAD v3: 5-149978224-C-T
gnomAD v4: 5-149978224-C-T
COSMIC: COSM285053
MyVariant Identifiers: chr5:g.149357787C>T (hg19) chr5:g.149978224C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978224C>T , CM000667.2:g.149978224C>T GRCh38
NC_000005.9:g.149357787C>T , CM000667.1:g.149357787C>T GRCh37
NC_000005.8:g.149337980C>T NCBI36
NG_007147.2:g.19342C>T , LRG_684:g.19342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.804C>T
ENST00000286298.5:c.572C>T MANE Select ENSP00000286298.4:p.Ala191Val
ENST00000286298.4:c.572C>T ENSP00000286298.4:p.Ala191Val
ENST00000503336.1:c.245C>T ENSP00000426053.1:p.Ala82Val
NM_000112.3:c.572C>T , LRG_684t1:c.572C>T NP_000103.2:p.Ala191Val
XM_017009191.2:c.572C>T XP_016864680.1:p.Ala191Val
NM_000112.4:c.572C>T MANE Select NP_000103.2:p.Ala191Val
Search 100 bp 5'
Search 100 bp 3'