Canonical Allele Identifier: CA1590738830
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981564_149981565delinsAT , CM000667.2:g.149981564_149981565delinsAT GRCh38
NC_000005.9:g.149361127_149361128delinsAT , CM000667.1:g.149361127_149361128delinsAT GRCh37
NC_000005.8:g.149341320_149341321delinsAT NCBI36
NG_007147.2:g.22682_22683delinsAT , LRG_684:g.22682_22683delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1971_1972delinsAT MANE Select ENSP00000286298.4:p.Gln657=
ENST00000286298.4:c.1971_1972delinsAT ENSP00000286298.4:p.Gln657=
ENST00000503336.1:c.372+3213_372+3214delinsAT ENSP00000426053.1:n.372+3213_372+3214delinsAT
NM_000112.3:c.1971_1972delinsAT , LRG_684t1:c.1971_1972delinsAT NP_000103.2:p.Gln657=
XM_017009191.2:c.1971_1972delinsAT XP_016864680.1:p.Gln657=
NM_000112.4:c.1971_1972delinsAT MANE Select NP_000103.2:p.Gln657=