Canonical Allele Identifier: CA129082739
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs991566867
gnomAD v3: 5-149978310-A-G
gnomAD v4: 5-149978310-A-G
MyVariant Identifiers: chr5:g.149357873A>G (hg19) chr5:g.149978310A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978310A>G , CM000667.2:g.149978310A>G GRCh38
NC_000005.9:g.149357873A>G , CM000667.1:g.149357873A>G GRCh37
NC_000005.8:g.149338066A>G NCBI36
NG_007147.2:g.19428A>G , LRG_684:g.19428A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.890A>G
ENST00000286298.5:c.658A>G MANE Select ENSP00000286298.4:p.Met220Val
ENST00000286298.4:c.658A>G ENSP00000286298.4:p.Met220Val
ENST00000503336.1:c.331A>G ENSP00000426053.1:p.Met111Val
NM_000112.3:c.658A>G , LRG_684t1:c.658A>G NP_000103.2:p.Met220Val
XM_017009191.2:c.658A>G XP_016864680.1:p.Met220Val
NM_000112.4:c.658A>G MANE Select NP_000103.2:p.Met220Val
Search 100 bp 5'
Search 100 bp 3'