Canonical Allele Identifier: CA361708760
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 942484
ClinVar RCV Id: RCV001212481 RCV004528418 RCV003473759
dbSNP Id: rs905644652
COSMIC: COSM1064229
MyVariant Identifiers: chr5:g.149360933G>T (hg19) chr5:g.149981370G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1777G>T MANE Select ENSP00000286298.4:p.Glu593Ter
ENST00000286298.4:c.1777G>T ENSP00000286298.4:p.Glu593Ter
ENST00000503336.1:c.372+3019G>T ENSP00000426053.1:n.372+3019G>T
NM_000112.3:c.1777G>T , LRG_684t1:c.1777G>T NP_000103.2:p.Glu593Ter
XM_017009191.2:c.1777G>T XP_016864680.1:p.Glu593Ter
NM_000112.4:c.1777G>T MANE Select NP_000103.2:p.Glu593Ter
Search 100 bp 5'
Search 100 bp 3'