Canonical Allele Identifier: CA3505542
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 255132
ClinVar RCV Id: RCV000242222 RCV000898816 RCV001154667 RCV001154668 RCV001154669 RCV001154670 RCV001154671
dbSNP Id: rs116657359
ExAC: 5:149361202 G / A
gnomAD v2: 5-149361202-G-A
gnomAD v3: 5-149981639-G-A
gnomAD v4: 5-149981639-G-A
MyVariant Identifiers: chr5:g.149361202G>A (hg19) chr5:g.149981639G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981639G>A , CM000667.2:g.149981639G>A GRCh38
NC_000005.9:g.149361202G>A , CM000667.1:g.149361202G>A GRCh37
NC_000005.8:g.149341395G>A NCBI36
NG_007147.2:g.22757G>A , LRG_684:g.22757G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.2046G>A MANE Select ENSP00000286298.4:p.Leu682=
ENST00000286298.4:c.2046G>A ENSP00000286298.4:p.Leu682=
ENST00000503336.1:c.372+3288G>A ENSP00000426053.1:n.372+3288G>A
NM_000112.3:c.2046G>A , LRG_684t1:c.2046G>A NP_000103.2:p.Leu682=
XM_017009191.2:c.2046G>A XP_016864680.1:p.Leu682=
NM_000112.4:c.2046G>A MANE Select NP_000103.2:p.Leu682=
Search 100 bp 5'
Search 100 bp 3'