Canonical Allele Identifier: CA252996
Gene: SLC26A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4098
dbSNP Id: rs104893924

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981550T>A , CM000667.2:g.149981550T>A GRCh38
NC_000005.9:g.149361113T>A , CM000667.1:g.149361113T>A GRCh37
NC_000005.8:g.149341306T>A NCBI36
NG_007147.2:g.22668T>A , LRG_684:g.22668T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1957T>A MANE Select ENSP00000286298.4:p.Cys653Ser
ENST00000286298.4:c.1957T>A ENSP00000286298.4:p.Cys653Ser
ENST00000503336.1:c.372+3199T>A ENSP00000426053.1:n.372+3199T>A
NM_000112.3:c.1957T>A , LRG_684t1:c.1957T>A NP_000103.2:p.Cys653Ser
XM_017009191.2:c.1957T>A XP_016864680.1:p.Cys653Ser
NM_000112.4:c.1957T>A MANE Select NP_000103.2:p.Cys653Ser