Canonical Allele Identifier: CA1590737397
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978083_149978084delinsCT , CM000667.2:g.149978083_149978084delinsCT GRCh38
NC_000005.9:g.149357646_149357647delinsCT , CM000667.1:g.149357646_149357647delinsCT GRCh37
NC_000005.8:g.149337839_149337840delinsCT NCBI36
NG_007147.2:g.19201_19202delinsCT , LRG_684:g.19201_19202delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.663_664delinsCT
ENST00000286298.5:c.431_432delinsCT MANE Select ENSP00000286298.4:p.Ser144=
ENST00000286298.4:c.431_432delinsCT ENSP00000286298.4:p.Ser144=
ENST00000503336.1:c.104_105delinsCT ENSP00000426053.1:p.Ser35=
NM_000112.3:c.431_432delinsCT , LRG_684t1:c.431_432delinsCT NP_000103.2:p.Ser144=
XM_017009191.2:c.431_432delinsCT XP_016864680.1:p.Ser144=
NM_000112.4:c.431_432delinsCT MANE Select NP_000103.2:p.Ser144=