Canonical Allele Identifier: CA1590738775
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981425T= , CM000667.2:g.149981425T= GRCh38
NC_000005.9:g.149360988T= , CM000667.1:g.149360988T= GRCh37
NC_000005.8:g.149341181T= NCBI36
NG_007147.2:g.22543T= , LRG_684:g.22543T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1832T= MANE Select ENSP00000286298.4:p.Val611=
ENST00000286298.4:c.1832T= ENSP00000286298.4:p.Val611=
ENST00000503336.1:c.372+3074T= ENSP00000426053.1:n.372+3074T=
NM_000112.3:c.1832T= , LRG_684t1:c.1832T= NP_000103.2:p.Val611=
XM_017009191.2:c.1832T= XP_016864680.1:p.Val611=
NM_000112.4:c.1832T= MANE Select NP_000103.2:p.Val611=