Canonical Allele Identifier: CA361704888
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 553337
ClinVar RCV Id: RCV000668759
dbSNP Id: rs1554095137
MyVariant Identifiers: chr5:g.149357602T>G (hg19) chr5:g.149978039T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978039T>G , CM000667.2:g.149978039T>G GRCh38
NC_000005.9:g.149357602T>G , CM000667.1:g.149357602T>G GRCh37
NC_000005.8:g.149337795T>G NCBI36
NG_007147.2:g.19157T>G , LRG_684:g.19157T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.619T>G
ENST00000286298.5:c.387T>G MANE Select ENSP00000286298.4:p.Tyr129Ter
ENST00000286298.4:c.387T>G ENSP00000286298.4:p.Tyr129Ter
ENST00000503336.1:c.60T>G ENSP00000426053.1:p.Tyr20Ter
NM_000112.3:c.387T>G , LRG_684t1:c.387T>G NP_000103.2:p.Tyr129Ter
XM_017009191.2:c.387T>G XP_016864680.1:p.Tyr129Ter
NM_000112.4:c.387T>G MANE Select NP_000103.2:p.Tyr129Ter
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