Canonical Allele Identifier: CA3505539
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 729800
ClinVar RCV Id: RCV000904500 RCV001825819
dbSNP Id: rs762132863
ExAC: 5:149361193 C / T
gnomAD v2: 5-149361193-C-T
gnomAD v3: 5-149981630-C-T
gnomAD v4: 5-149981630-C-T
MyVariant Identifiers: chr5:g.149361193C>T (hg19) chr5:g.149981630C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981630C>T , CM000667.2:g.149981630C>T GRCh38
NC_000005.9:g.149361193C>T , CM000667.1:g.149361193C>T GRCh37
NC_000005.8:g.149341386C>T NCBI36
NG_007147.2:g.22748C>T , LRG_684:g.22748C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.2037C>T MANE Select ENSP00000286298.4:p.Ile679=
ENST00000286298.4:c.2037C>T ENSP00000286298.4:p.Ile679=
ENST00000503336.1:c.372+3279C>T ENSP00000426053.1:n.372+3279C>T
NM_000112.3:c.2037C>T , LRG_684t1:c.2037C>T NP_000103.2:p.Ile679=
XM_017009191.2:c.2037C>T XP_016864680.1:p.Ile679=
NM_000112.4:c.2037C>T MANE Select NP_000103.2:p.Ile679=
Search 100 bp 5'
Search 100 bp 3'