Canonical Allele Identifier: CA447402195
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2940581
ClinVar RCV Id: RCV003799891
MyVariant Identifiers: chr5:g.149360002T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980439T>C , CM000667.2:g.149980439T>C GRCh38
NC_000005.9:g.149360002T>C , CM000667.1:g.149360002T>C GRCh37
NC_000005.8:g.149340195T>C NCBI36
NG_007147.2:g.21557T>C , LRG_684:g.21557T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.846T>C MANE Select ENSP00000286298.4:p.Gly282=
ENST00000286298.4:c.846T>C ENSP00000286298.4:p.Gly282=
ENST00000503336.1:c.372+2088T>C ENSP00000426053.1:n.372+2088T>C
NM_000112.3:c.846T>C , LRG_684t1:c.846T>C NP_000103.2:p.Gly282=
XM_017009191.2:c.846T>C XP_016864680.1:p.Gly282=
NM_000112.4:c.846T>C MANE Select NP_000103.2:p.Gly282=
Search 100 bp 5'
Search 100 bp 3'