Canonical Allele Identifier: CA447402238
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 752095
ClinVar RCV Id: RCV001493560
dbSNP Id: rs1581231740
MyVariant Identifiers: chr5:g.149360032T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980469T>C , CM000667.2:g.149980469T>C GRCh38
NC_000005.9:g.149360032T>C , CM000667.1:g.149360032T>C GRCh37
NC_000005.8:g.149340225T>C NCBI36
NG_007147.2:g.21587T>C , LRG_684:g.21587T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.876T>C MANE Select ENSP00000286298.4:p.His292=
ENST00000286298.4:c.876T>C ENSP00000286298.4:p.His292=
ENST00000503336.1:c.372+2118T>C ENSP00000426053.1:n.372+2118T>C
NM_000112.3:c.876T>C , LRG_684t1:c.876T>C NP_000103.2:p.His292=
XM_017009191.2:c.876T>C XP_016864680.1:p.His292=
NM_000112.4:c.876T>C MANE Select NP_000103.2:p.His292=