Canonical Allele Identifier: CA1590737375
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978040_149978041delinsTC , CM000667.2:g.149978040_149978041delinsTC GRCh38
NC_000005.9:g.149357603_149357604delinsTC , CM000667.1:g.149357603_149357604delinsTC GRCh37
NC_000005.8:g.149337796_149337797delinsTC NCBI36
NG_007147.2:g.19158_19159delinsTC , LRG_684:g.19158_19159delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.620_621delinsTC
ENST00000286298.5:c.388_389delinsTC MANE Select ENSP00000286298.4:p.Ser130=
ENST00000286298.4:c.388_389delinsTC ENSP00000286298.4:p.Ser130=
ENST00000503336.1:c.61_62delinsTC ENSP00000426053.1:p.Ser21=
NM_000112.3:c.388_389delinsTC , LRG_684t1:c.388_389delinsTC NP_000103.2:p.Ser130=
XM_017009191.2:c.388_389delinsTC XP_016864680.1:p.Ser130=
NM_000112.4:c.388_389delinsTC MANE Select NP_000103.2:p.Ser130=