Canonical Allele Identifier: CA129082733
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2199553
ClinVar RCV Id: RCV002624987
dbSNP Id: rs545719885
gnomAD v2: 5-149357850-G-T
gnomAD v3: 5-149978287-G-T
gnomAD v4: 5-149978287-G-T
MyVariant Identifiers: chr5:g.149357850G>T (hg19) chr5:g.149978287G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978287G>T , CM000667.2:g.149978287G>T GRCh38
NC_000005.9:g.149357850G>T , CM000667.1:g.149357850G>T GRCh37
NC_000005.8:g.149338043G>T NCBI36
NG_007147.2:g.19405G>T , LRG_684:g.19405G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.867G>T
ENST00000286298.5:c.635G>T MANE Select ENSP00000286298.4:p.Cys212Phe
ENST00000286298.4:c.635G>T ENSP00000286298.4:p.Cys212Phe
ENST00000503336.1:c.308G>T ENSP00000426053.1:p.Cys103Phe
NM_000112.3:c.635G>T , LRG_684t1:c.635G>T NP_000103.2:p.Cys212Phe
XM_017009191.2:c.635G>T XP_016864680.1:p.Cys212Phe
NM_000112.4:c.635G>T MANE Select NP_000103.2:p.Cys212Phe
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