Canonical Allele Identifier: CA361704038
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2110308
ClinVar RCV Id: RCV003020212
MyVariant Identifiers: chr5:g.149357333A>T (hg19) chr5:g.149977770A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977770A>T , CM000667.2:g.149977770A>T GRCh38
NC_000005.9:g.149357333A>T , CM000667.1:g.149357333A>T GRCh37
NC_000005.8:g.149337526A>T NCBI36
NG_007147.2:g.18888A>T , LRG_684:g.18888A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.350A>T
ENST00000286298.5:c.118A>T MANE Select ENSP00000286298.4:p.Lys40Ter
ENST00000286298.4:c.118A>T ENSP00000286298.4:p.Lys40Ter
NM_000112.3:c.118A>T , LRG_684t1:c.118A>T NP_000103.2:p.Lys40Ter
XM_017009191.2:c.118A>T XP_016864680.1:p.Lys40Ter
NM_000112.4:c.118A>T MANE Select NP_000103.2:p.Lys40Ter
Search 100 bp 5'
Search 100 bp 3'