Canonical Allele Identifier: CA16040994
Gene: SLC26A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371786
dbSNP Id: rs1057517532

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980653G>T , CM000667.2:g.149980653G>T GRCh38
NC_000005.9:g.149360216G>T , CM000667.1:g.149360216G>T GRCh37
NC_000005.8:g.149340409G>T NCBI36
NG_007147.2:g.21771G>T , LRG_684:g.21771G>T

Transcript Alleles

HGVS Amino-acid change
NM_000112.3:c.1060G>T , LRG_684t1:c.1060G>T NP_000103.2:p.Glu354Ter
XM_017009191.2:c.1060G>T XP_016864680.1:p.Glu354Ter
ENST00000286298.4:c.1060G>T ENSP00000286298.4:p.Glu354Ter
ENST00000503336.1:n.372+2302G>T ENSP00000426053.1:p.=