Canonical Allele Identifier: CA129084634
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs905644652
gnomAD v4: 5-149981370-G-A
COSMIC: COSM4726905
MyVariant Identifiers: chr5:g.149360933G>A (hg19) chr5:g.149981370G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981370G>A , CM000667.2:g.149981370G>A GRCh38
NC_000005.9:g.149360933G>A , CM000667.1:g.149360933G>A GRCh37
NC_000005.8:g.149341126G>A NCBI36
NG_007147.2:g.22488G>A , LRG_684:g.22488G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1777G>A MANE Select ENSP00000286298.4:p.Glu593Lys
ENST00000286298.4:c.1777G>A ENSP00000286298.4:p.Glu593Lys
ENST00000503336.1:c.372+3019G>A ENSP00000426053.1:n.372+3019G>A
NM_000112.3:c.1777G>A , LRG_684t1:c.1777G>A NP_000103.2:p.Glu593Lys
XM_017009191.2:c.1777G>A XP_016864680.1:p.Glu593Lys
NM_000112.4:c.1777G>A MANE Select NP_000103.2:p.Glu593Lys
Search 100 bp 5'
Search 100 bp 3'